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Hay–Wells syndrome

April 12, 2024

Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of ectodermal dysplasia.[1][2] These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.

Hay–Wells syndrome
Other namesAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome
Hay–Wells syndrome has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics 

Genetics edit

Hay–Wells syndrome is autosomal dominant,[3] caused by a missense mutation in the Sterile alpha motif (SAM) of the TP73L (p63) gene which encodes for a protein-protein interaction domain.[3] It is a very rare disorder.

Hay–Wells syndrome is an autosomal dominant pattern of inheritance.[4] The syndrome is thought to arise from a missense mutation in a gene pivotal for the proper development of craniofacial structures and extremities, as well as skin differentiation.[5] Specifically, mutations within the Tumor Protein 63 gene have been implicated in Hay–Wells syndrome.[6]

Residing on the long-arm of chromosome 3, the Tumor Protein 63 (TP63) gene is critical for proper development and homeostasis of stratified epithelia.[7] In Hay–Wells syndrome, and other ectodermal dysplasia disorders, a missense, nonsense, or insertion mutation has occurred in the TP63 gene. Currently, no deletion or duplication mutations have been detected in such disorders.[6] Although ectodermal dysplasia disorders result from heterozygous mutations in TP63, compromised epidermal differentiation with epidermal decay is representative of Hay-Wells patients but is hardly observed in other syndromes. In contrast, severe abnormalities characteristic of other ectodermal dysplasia disorders (i.e. limb abnormalities in EEC) are not seen in Hay-Wells patients.[8][9][10]

Proteomics edit

TP63 encodes for the p63 transcription factor, which is implicated in proliferation, differentiation, apoptosis, regular cell maintenance, and cell adhesion. Specifically, p63 is expressed within early keratinocytes and the embryonic ectodermal ridge during development. Thus, p63 is believed to play a pivotal role in the development and maintenance of the epidermis.[11] Reported mutations that have resulted in Hay–Wells syndrome have occurred within the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains of the p63-coding region.[citation needed] The SAM domain of p63 is thought to be imperative for protein-protein interactions, while the TI domain may play a role in the repression of other isoforms of p63.[12][13] Recent work has shown that mutations within these domains lead to repression of other known transcriptional activators of epidermal differentiation. These transcription activators include: GRHL3, HOPX, PRDM1, KLF4, and ZNF750.[10][14][15] Most notably, Hay-Wells-type p63 mutations cause irregular repression of the genes that encode for ZNF750. The down-regulation of ZNF750 has been shown to hinder the expression of the other before mentioned differentiation-activators such as HOPX, PRDM1, KLF4, and GRHL3. In contrast, recapitulating the expression of ZNF750 leads to significant rescue of normal epidermal differentiation.[10]

Phenotype edit

Hay–Wells syndrome is the result of the invariant mutations of the p63 transcription factor that have been previously identified. Due to the diminished activities of p63, patients can experience a host of symptoms related to the operation of keratinocytes. In particular, the hypopigmentation observed in several Hay-Wells patients is believed to be the result of improperly developed keratinocytes not being able to properly interact with melanocytes.[16] However, as it stands, this display of Hay–Wells syndrome has not been entirely comprehended. Most noted are the abnormal development of hair, teeth, glands, and nails.[4]

Diagnosis edit

In HWS, the hair is coarse and sparse, eyelashes are sparse or absent, nails may be absent or malformed, and teeth may be small and malformed. There may be fewer than normal sweat glands and they may produce little sweat, a condition known generally as hypohidrosis. Chronic inflammatory dermatitis of the scalp is a common symptom.[17]

Two features differentiate HWS from other ectodermal displasias. First, the syndrome is associated with cleft palate, and, less often, cleft lip. Second, the edges of the upper and lower eyelid grow bands of fibrous tissue, often causing them to be fused together. This condition in the eyelids is called ankyloblepharon filiforme adnatum.[citation needed]

Management edit

Etymology edit

Hay–Wells syndrome is also known as AEC syndrome; this is short for "ankyloblepharon–ectodermal dysplasia–clefting syndrome", "ankyloblepharon filiforme adnatum–ectodermal dysplasia–cleft palate syndrome",[18] "ankyloblepharon–ectodermal defects–cleft lip/palate (AEC) syndrome",[9] "ankyloblepharon–ectodermal defect–cleft lip and/or palate syndrome",[19] or "ankyloblepharon ectodermal dysplasia and clefting".[20] Hay–Wells syndrome, or Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndrome, is one of the least known form of ectodermal dysplasia; a collection of inherited diseases that cause atypical development of nails, glands, teeth, and hair. Fewer than 100 affected individuals have been described in the medical literature. Males and females are equally affected by Hay–Wells syndrome. No demographic has been shown to be especially susceptible to the syndrome.[21] Symptoms are apparent at birth, or become apparent when atypical development of teeth occurs.[4] Major symptoms of Hay–Wells syndrome include: sparse hair and eyelashes, missing teeth, cleft palate, cleft lip with fusing of the upper and lower eyelids, and deformed nails.[5][22] Therefore, a diagnosis of Hay–Wells syndrome is largely based upon the physical clinical presentation of the patient.[22]

See also edit

References edit

  1. ^ Online Mendelian Inheritance in Man (OMIM): 106260
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 571. ISBN 978-0-7216-2921-6.
  3. ^ a b McGrath, John A.; Duijf, Pascal H.G.; Doetsch, Volker; Irvine, Alan D.; de Waal, Rob; Vanmolkot, Kaate R.J.; Wessagowit, Vesarat; Kelly, Alexander; Atherton, David J.; Griffiths, W. Andrew D.; Orlow, Seth J.; van Haeringen, Arie; Ausems, Margreet G.E.M.; Yang, Annie; McKeon, Frank; Bamshad, Michael A.; Brunner, Han G.; Hamel, Ben C.J.; van Bokhoven, Hans (2001). "Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63". Human Molecular Genetics. 10 (3): 221–9. doi:10.1093/hmg/10.3.221. PMID 11159940.
  4. ^ a b c Nagaveni, NB; Umashankara, KV (2011). "Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder". Indian Journal of Human Genetics. 17 (3): 245–6. doi:10.4103/0971-6866.92084. PMC 3277001. PMID 22346004.
  5. ^ a b Macias, Emilio; de Carlos, Felix; Cobo, Juan (2006). "Hay–Wells syndrome (AEC): a case report". Oral Diseases. 12 (5): 506–8. doi:10.1111/j.1601-0825.2006.01227.x. PMID 16910923.
  6. ^ a b Rinne, Tuula; Bolat, Emine; Meijer, Rowdy; Scheffer, Hans; van Bokhoven, Hans (2009). "Spectrum ofp63mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)". American Journal of Medical Genetics Part A. 149A (9): 1948–51. doi:10.1002/ajmg.a.32793. PMID 19676060. S2CID 8094555.
  7. ^ Senoo, Makoto; Pinto, Filipa; Crum, Christopher P.; McKeon, Frank (2007). "p63 Is Essential for the Proliferative Potential of Stem Cells in Stratified Epithelia". Cell. 129 (3): 523–36. doi:10.1016/j.cell.2007.02.045. PMID 17482546. S2CID 12973449.
  8. ^ Brunner, H G; Hamel, B C J; van Bokhoven, H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–81. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
  9. ^ a b Julapalli, Meena R.; Scher, Richard K.; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F. (2009). "Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1900–6. doi:10.1002/ajmg.a.32797. PMID 19681128. S2CID 205310929.
  10. ^ a b c Zarnegar, Brian J.; Webster, Dan E.; Lopez-Pajares, Vanessa; Vander Stoep Hunt, Brook; Qu, Kun; Yan, Karen J.; Berk, David R.; Sen, George L.; Khavari, Paul A. (2012). "Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63". The American Journal of Human Genetics. 91 (3): 435–43. doi:10.1016/j.ajhg.2012.07.007. PMC 3511987. PMID 22922031.
  11. ^ Chan, I.; McGrath, J. A.; Kivirikko, S. (2005). "Rapp–Hodgkin syndrome and the tail of p63". Clinical and Experimental Dermatology. 30 (2): 183–6. doi:10.1111/j.1365-2230.2004.01715.x. PMID 15725251. S2CID 43530434.
  12. ^ Koster, Maranke I; Roop, Dennis R. (2004). "The role of p63 in development and differentiation of the epidermis". Journal of Dermatological Science. 34 (1): 3–9. doi:10.1016/j.jdermsci.2003.10.003. PMID 14757276.
  13. ^ van Bokhoven, Hans; Brunner, Han G. (2002). "Splitting p63". The American Journal of Human Genetics. 71 (1): 1–13. doi:10.1086/341450. PMC 384966. PMID 12037717.
  14. ^ Birnbaum, Ramon Y; Zvulunov, Alex; Hallel-Halevy, Dafna; Cagnano, Emanuella; Finer, Gal; Ofir, Rivka; Geiger, Dan; Silberstein, Eldad; Feferman, Yael; Birk, Ohad S (2006). "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein". Nature Genetics. 38 (7): 749–51. doi:10.1038/ng1813. PMID 16751772. S2CID 1033959.
  15. ^ Yang, Chi-Fan; Hwu, Wuh-Liang; Yang, Li-Cheng; Chung, Wen-Hung; Chien, Yin-Hsiu; Hung, Chia-Fu; Chen, Hung-Chih; Tsai, Pei-Joung; Fann, Cathy S J; Liao, Fang; Chen, Yuan-Tsong (2008). "A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis". Journal of Investigative Dermatology. 128 (7): 1662–8. doi:10.1038/jid.2008.1. PMID 18256691.
  16. ^ Seiberg, M.; Paine, C.; Sharlow, E.; Andrade-Gordon, P.; Costanzo, M.; Eisinger, M.; Shapiro, S.S. (2000). "The Protease-Activated Receptor 2 Regulates Pigmentation via Keratinocyte-Melanocyte Interactions". Experimental Cell Research. 254 (1): 25–32. doi:10.1006/excr.1999.4692. PMID 10623462.
  17. ^ Ectodermal Dysplasia~clinical at eMedicine
  18. ^ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 518. ISBN 978-0-07-138076-8.
  19. ^ Motil, Kathleen J.; Fete, Timothy J. (2009). "Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1922–5. doi:10.1002/ajmg.a.32789. PMID 19676058. S2CID 22501525.
  20. ^ Koster, Maranke I.; Marinari, Barbara; Payne, Aimee S.; Kantaputra, Piranit N.; Costanzo, Antonio; Roop, Dennis R. (2009). "ΔNp63 knockdown mice: A mouse model for AEC syndrome". American Journal of Medical Genetics Part A. 149A (9): 1942–7. doi:10.1002/ajmg.a.32794. PMC 2753548. PMID 19681108.
  21. ^ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "AEC Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2021-02-23
  22. ^ a b Hay, R.J.; Wells, R.S. (1976). "The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition". British Journal of Dermatology. 94 (3): 277–89. doi:10.1111/j.1365-2133.1976.tb04384.x. PMID 946410. S2CID 29335053.

Further reading edit

  • Clements, S.E.; Techanukul, T.; Holden, S.T.; Mellerio, J.E.; Dorkins, H.; Escande, F.; McGrath, J.A. (2010). "Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder". British Journal of Dermatology. 163 (3): 624–9. doi:10.1111/j.1365-2133.2010.09859.x. PMID 20491771. S2CID 44866051.
  • Korf, B.R. (2011). "Principles of Genetics". In Goldman, L; Ausiello, D (eds.). Cecil Medicine (24th ed.). Philadelphia: Saunders Elsevier.
  • Sathyamurthy, Aruna; Freund, Stefan M. V.; Johnson, Christopher M.; Allen, Mark D.; Bycroft, Mark (2011). "Structural basis of p63α SAM domain mutants involved in AEC syndrome". FEBS Journal. 278 (15): 2680–8. doi:10.1111/j.1742-4658.2011.08194.x. PMID 21615690. S2CID 41547715.
  • GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay-Wells Syndrome. Includes: Rapp–Hodgkin Syndrome

External links edit

  • OMIM entries on AEC

April 12, 2024
wells, syndrome, this, article, needs, additional, citations, verification, please, help, improve, this, article, adding, citations, reliable, sources, unsourced, material, challenged, removed, find, sources, news, newspapers, books, scholar, jstor, august, 20. This article needs additional citations for verification Please help improve this article by adding citations to reliable sources Unsourced material may be challenged and removed Find sources Hay Wells syndrome news newspapers books scholar JSTOR August 2020 Learn how and when to remove this template message Hay Wells syndrome also known as AEC syndrome see Naming is one of at least 150 known types of ectodermal dysplasia 1 2 These disorders affect tissues that arise from the ectodermal germ layer such as skin hair and nails Hay Wells syndromeOther namesAnkyloblepharon ectodermal defects cleft lip palate syndromeHay Wells syndrome has an autosomal dominant pattern of inheritanceSpecialtyMedical genetics Contents 1 Genetics 1 1 Proteomics 1 2 Phenotype 2 Diagnosis 3 Management 4 Etymology 5 See also 6 References 7 Further reading 8 External linksGenetics editHay Wells syndrome is autosomal dominant 3 caused by a missense mutation in the Sterile alpha motif SAM of the TP73L p63 gene which encodes for a protein protein interaction domain 3 It is a very rare disorder Hay Wells syndrome is an autosomal dominant pattern of inheritance 4 The syndrome is thought to arise from a missense mutation in a gene pivotal for the proper development of craniofacial structures and extremities as well as skin differentiation 5 Specifically mutations within the Tumor Protein 63 gene have been implicated in Hay Wells syndrome 6 Residing on the long arm of chromosome 3 the Tumor Protein 63 TP63 gene is critical for proper development and homeostasis of stratified epithelia 7 In Hay Wells syndrome and other ectodermal dysplasia disorders a missense nonsense or insertion mutation has occurred in the TP63 gene Currently no deletion or duplication mutations have been detected in such disorders 6 Although ectodermal dysplasia disorders result from heterozygous mutations in TP63 compromised epidermal differentiation with epidermal decay is representative of Hay Wells patients but is hardly observed in other syndromes In contrast severe abnormalities characteristic of other ectodermal dysplasia disorders i e limb abnormalities in EEC are not seen in Hay Wells patients 8 9 10 Proteomics edit TP63 encodes for the p63 transcription factor which is implicated in proliferation differentiation apoptosis regular cell maintenance and cell adhesion Specifically p63 is expressed within early keratinocytes and the embryonic ectodermal ridge during development Thus p63 is believed to play a pivotal role in the development and maintenance of the epidermis 11 Reported mutations that have resulted in Hay Wells syndrome have occurred within the sterile alpha motif SAM and the transactivation inhibitory TI domains of the p63 coding region citation needed The SAM domain of p63 is thought to be imperative for protein protein interactions while the TI domain may play a role in the repression of other isoforms of p63 12 13 Recent work has shown that mutations within these domains lead to repression of other known transcriptional activators of epidermal differentiation These transcription activators include GRHL3 HOPX PRDM1 KLF4 and ZNF750 10 14 15 Most notably Hay Wells type p63 mutations cause irregular repression of the genes that encode for ZNF750 The down regulation of ZNF750 has been shown to hinder the expression of the other before mentioned differentiation activators such as HOPX PRDM1 KLF4 and GRHL3 In contrast recapitulating the expression of ZNF750 leads to significant rescue of normal epidermal differentiation 10 Phenotype edit Hay Wells syndrome is the result of the invariant mutations of the p63 transcription factor that have been previously identified Due to the diminished activities of p63 patients can experience a host of symptoms related to the operation of keratinocytes In particular the hypopigmentation observed in several Hay Wells patients is believed to be the result of improperly developed keratinocytes not being able to properly interact with melanocytes 16 However as it stands this display of Hay Wells syndrome has not been entirely comprehended Most noted are the abnormal development of hair teeth glands and nails 4 Diagnosis editIn HWS the hair is coarse and sparse eyelashes are sparse or absent nails may be absent or malformed and teeth may be small and malformed There may be fewer than normal sweat glands and they may produce little sweat a condition known generally as hypohidrosis Chronic inflammatory dermatitis of the scalp is a common symptom 17 Two features differentiate HWS from other ectodermal displasias First the syndrome is associated with cleft palate and less often cleft lip Second the edges of the upper and lower eyelid grow bands of fibrous tissue often causing them to be fused together This condition in the eyelids is called ankyloblepharon filiforme adnatum citation needed Management editThis section is empty You can help by adding to it May 2017 Etymology editHay Wells syndrome is also known as AEC syndrome this is short for ankyloblepharon ectodermal dysplasia clefting syndrome ankyloblepharon filiforme adnatum ectodermal dysplasia cleft palate syndrome 18 ankyloblepharon ectodermal defects cleft lip palate AEC syndrome 9 ankyloblepharon ectodermal defect cleft lip and or palate syndrome 19 or ankyloblepharon ectodermal dysplasia and clefting 20 Hay Wells syndrome or Ankyloblepharon Ectodermal Dysplasia Clefting AEC syndrome is one of the least known form of ectodermal dysplasia a collection of inherited diseases that cause atypical development of nails glands teeth and hair Fewer than 100 affected individuals have been described in the medical literature Males and females are equally affected by Hay Wells syndrome No demographic has been shown to be especially susceptible to the syndrome 21 Symptoms are apparent at birth or become apparent when atypical development of teeth occurs 4 Major symptoms of Hay Wells syndrome include sparse hair and eyelashes missing teeth cleft palate cleft lip with fusing of the upper and lower eyelids and deformed nails 5 22 Therefore a diagnosis of Hay Wells syndrome is largely based upon the physical clinical presentation of the patient 22 See also editTP73L List of cutaneous conditions List of dental abnormalities associated with cutaneous conditionsReferences edit Online Mendelian Inheritance in Man OMIM 106260 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders p 571 ISBN 978 0 7216 2921 6 a b McGrath John A Duijf Pascal H G Doetsch Volker Irvine Alan D de Waal Rob Vanmolkot Kaate R J Wessagowit Vesarat Kelly Alexander Atherton David J Griffiths W Andrew D Orlow Seth J van Haeringen Arie Ausems Margreet G E M Yang Annie McKeon Frank Bamshad Michael A Brunner Han G Hamel Ben C J van Bokhoven Hans 2001 Hay Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 Human Molecular Genetics 10 3 221 9 doi 10 1093 hmg 10 3 221 PMID 11159940 a b c Nagaveni NB Umashankara KV 2011 Hay Wells syndrome of ectodermal dysplasia A rare autosomal dominant disorder Indian Journal of Human Genetics 17 3 245 6 doi 10 4103 0971 6866 92084 PMC 3277001 PMID 22346004 a b Macias Emilio de Carlos Felix Cobo Juan 2006 Hay Wells syndrome AEC a case report Oral Diseases 12 5 506 8 doi 10 1111 j 1601 0825 2006 01227 x PMID 16910923 a b Rinne Tuula Bolat Emine Meijer Rowdy Scheffer Hans van Bokhoven Hans 2009 Spectrum ofp63mutations in a selected patient cohort affected with ankyloblepharon ectodermal defects cleft lip palate syndrome AEC American Journal of Medical Genetics Part A 149A 9 1948 51 doi 10 1002 ajmg a 32793 PMID 19676060 S2CID 8094555 Senoo Makoto Pinto Filipa Crum Christopher P McKeon Frank 2007 p63 Is Essential for the Proliferative Potential of Stem Cells in Stratified Epithelia Cell 129 3 523 36 doi 10 1016 j cell 2007 02 045 PMID 17482546 S2CID 12973449 Brunner H G Hamel B C J van Bokhoven H 2002 The p63 gene in EEC and other syndromes Journal of Medical Genetics 39 6 377 81 doi 10 1136 jmg 39 6 377 PMC 1735150 PMID 12070241 a b Julapalli Meena R Scher Richard K Sybert Virginia P Siegfried Elaine C Bree Alanna F 2009 Dermatologic findings of ankyloblepharon ectodermal defects cleft lip palate AEC syndrome American Journal of Medical Genetics Part A 149A 9 1900 6 doi 10 1002 ajmg a 32797 PMID 19681128 S2CID 205310929 a b c Zarnegar Brian J Webster Dan E Lopez Pajares Vanessa Vander Stoep Hunt Brook Qu Kun Yan Karen J Berk David R Sen George L Khavari Paul A 2012 Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63 The American Journal of Human Genetics 91 3 435 43 doi 10 1016 j ajhg 2012 07 007 PMC 3511987 PMID 22922031 Chan I McGrath J A Kivirikko S 2005 Rapp Hodgkin syndrome and the tail of p63 Clinical and Experimental Dermatology 30 2 183 6 doi 10 1111 j 1365 2230 2004 01715 x PMID 15725251 S2CID 43530434 Koster Maranke I Roop Dennis R 2004 The role of p63 in development and differentiation of the epidermis Journal of Dermatological Science 34 1 3 9 doi 10 1016 j jdermsci 2003 10 003 PMID 14757276 van Bokhoven Hans Brunner Han G 2002 Splitting p63 The American Journal of Human Genetics 71 1 1 13 doi 10 1086 341450 PMC 384966 PMID 12037717 Birnbaum Ramon Y Zvulunov Alex Hallel Halevy Dafna Cagnano Emanuella Finer Gal Ofir Rivka Geiger Dan Silberstein Eldad Feferman Yael Birk Ohad S 2006 Seborrhea like dermatitis with psoriasiform elements caused by a mutation in ZNF750 encoding a putative C2H2 zinc finger protein Nature Genetics 38 7 749 51 doi 10 1038 ng1813 PMID 16751772 S2CID 1033959 Yang Chi Fan Hwu Wuh Liang Yang Li Cheng Chung Wen Hung Chien Yin Hsiu Hung Chia Fu Chen Hung Chih Tsai Pei Joung Fann Cathy S J Liao Fang Chen Yuan Tsong 2008 A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis Journal of Investigative Dermatology 128 7 1662 8 doi 10 1038 jid 2008 1 PMID 18256691 Seiberg M Paine C Sharlow E Andrade Gordon P Costanzo M Eisinger M Shapiro S S 2000 The Protease Activated Receptor 2 Regulates Pigmentation via Keratinocyte Melanocyte Interactions Experimental Cell Research 254 1 25 32 doi 10 1006 excr 1999 4692 PMID 10623462 Ectodermal Dysplasia clinical at eMedicine Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill p 518 ISBN 978 0 07 138076 8 Motil Kathleen J Fete Timothy J 2009 Growth nutritional and gastrointestinal aspects of ankyloblepharon ectodermal defect cleft lip and or palate AEC syndrome American Journal of Medical Genetics Part A 149A 9 1922 5 doi 10 1002 ajmg a 32789 PMID 19676058 S2CID 22501525 Koster Maranke I Marinari Barbara Payne Aimee S Kantaputra Piranit N Costanzo Antonio Roop Dennis R 2009 DNp63 knockdown mice A mouse model for AEC syndrome American Journal of Medical Genetics Part A 149A 9 1942 7 doi 10 1002 ajmg a 32794 PMC 2753548 PMID 19681108 Bissonnette Bruno Luginbuehl Igor Marciniak Bruno Dalens Bernard J 2006 AEC Syndrome Syndromes Rapid Recognition and Perioperative Implications New York NY The McGraw Hill Companies retrieved 2021 02 23 a b Hay R J Wells R S 1976 The syndrome of ankyloblepharon ectodermal defects and cleft lip and palate an autosomal dominant condition British Journal of Dermatology 94 3 277 89 doi 10 1111 j 1365 2133 1976 tb04384 x PMID 946410 S2CID 29335053 Further reading editClements S E Techanukul T Holden S T Mellerio J E Dorkins H Escande F McGrath J A 2010 Rapp Hodgkin and Hay Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder British Journal of Dermatology 163 3 624 9 doi 10 1111 j 1365 2133 2010 09859 x PMID 20491771 S2CID 44866051 Korf B R 2011 Principles of Genetics In Goldman L Ausiello D eds Cecil Medicine 24th ed Philadelphia Saunders Elsevier Sathyamurthy Aruna Freund Stefan M V Johnson Christopher M Allen Mark D Bycroft Mark 2011 Structural basis of p63a SAM domain mutants involved in AEC syndrome FEBS Journal 278 15 2680 8 doi 10 1111 j 1742 4658 2011 08194 x PMID 21615690 S2CID 41547715 GeneReviews NCBI NIH UW entry on Ankyloblepharon Ectodermal Defects Cleft Lip Palate Syndrome or AEC Syndrome Hay Wells Syndrome Includes Rapp Hodgkin SyndromeExternal links editOMIM entries on AEC Retrieved from https en wikipedia org w index php title Hay Wells syndrome amp oldid 1188055387, wikipedia, wiki, book, books, library,

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