Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [5] that in humans is encoded by the CHD7gene.[6][7]
Mutations in this gene have been associated with the CHARGE syndrome.
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000171316 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000041235 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Bouazoune, K; Kingston, RE (20 November 2012). "Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders". Proceedings of the National Academy of Sciences of the United States of America. 109 (47): 19238–43. Bibcode:2012PNAS..10919238B. doi:10.1073/pnas.1213825109. PMC3511097. PMID 23134727.
^Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
^"Entrez Gene: chromodomain helicase DNA binding protein 7".
^Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (Feb 2010). "CHD7 cooperates with PBAF to control multipotent neural crest formation". Nature. 463 (7283): 958–62. Bibcode:2010Natur.463..958B. doi:10.1038/nature08733. PMC2890258. PMID 20130577.
^Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (Sep 2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nature Genetics. 36 (9): 955–7. doi:10.1038/ng1407. PMID 15300250.
Further readingedit
Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D (Aug 2007). "Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability". Clinical Genetics. 72 (2): 112–21. doi:10.1111/j.1399-0004.2007.00821.x. PMID 17661815. S2CID 8143298.
Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K (Nov 2007). "Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype". American Journal of Medical Genetics Part A. 143A (22): 2712–5. doi:10.1002/ajmg.a.32008. PMID 17937444. S2CID 21353716.
Holak HM, Kohlhase J, Holak SA, Holak NH (Jun 2008). "New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene". Ophthalmic Genetics. 29 (2): 79–84. doi:10.1080/13816810801918391. PMID 18484313. S2CID 205807551.
Sanlaville D, Verloes A (Apr 2007). "CHARGE syndrome: an update". European Journal of Human Genetics. 15 (4): 389–99. doi:10.1038/sj.ejhg.5201778. PMID 17299439.
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC (Oct 2008). "Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome". American Journal of Human Genetics. 83 (4): 511–9. doi:10.1016/j.ajhg.2008.09.005. PMC2561938. PMID 18834967.
Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJ, Orr KL, Caprau D, Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML, Murray JC (Apr 2009). "Determination of genetic predisposition to patent ductus arteriosus in preterm infants". Pediatrics. 123 (4): 1116–23. doi:10.1542/peds.2008-0313. PMC2734952. PMID 19336370.
Wincent J, Schulze A, Schoumans J (2009). "Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype". European Journal of Medical Genetics. 52 (4): 271–2. doi:10.1016/j.ejmg.2009.02.005. PMID 19248844.
Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J (Jul 2008). "CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome". Clinical Genetics. 74 (1): 31–8. doi:10.1111/j.1399-0004.2008.01014.x. PMID 18445044. S2CID 205406725.
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D (Jul 2008). "Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome". Clinical and Experimental Immunology. 153 (1): 75–80. doi:10.1111/j.1365-2249.2008.03681.x. PMC2432100. PMID 18505430.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S (Apr 1998). "CHARGE syndrome: report of 47 cases and review". American Journal of Medical Genetics. 76 (5): 402–9. doi:10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O. PMID 9556299.
Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH (Jan 2009). "CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome". Clinical Genetics. 75 (1): 65–71. doi:10.1111/j.1399-0004.2008.01107.x. PMC2854009. PMID 19021638.
Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM (Jan 2008). "Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability". American Journal of Medical Genetics Part A. 146A (1): 43–50. doi:10.1002/ajmg.a.31921. PMID 18074359. S2CID 24479591.
Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA (Oct 2008). "A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features". Clinical Dysmorphology. 17 (4): 249–53. doi:10.1097/MCD.0b013e328306a704. PMID 18978652. S2CID 35257043.
Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM (2008). "Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome". European Journal of Medical Genetics. 51 (5): 417–25. doi:10.1016/j.ejmg.2008.03.003. PMID 18472328.
Lee YW, Kim SC, Shin YL, Kim JW, Hong HS, Lee YK, Ki CS (Mar 2009). "Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome". Clinical Genetics. 75 (3): 290–3. doi:10.1111/j.1399-0004.2008.01127.x. PMID 19159393. S2CID 43480931.
Qi Q, Yi L, Yang C, Chen H, Shen L, Mo X, Hu Y, Wang Y (Dec 2008). "[Mutation analysis of the CHD7 gene in patients with congenital heart disease]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 25 (6): 637–41. PMID 19065520.
Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC (2007). "Immunological abnormalities in CHARGE syndrome". European Journal of Medical Genetics. 50 (5): 338–45. doi:10.1016/j.ejmg.2007.05.002. PMID 17684005.
Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (Jun 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J (Oct 2007). "Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions". Genetics in Medicine. 9 (10): 690–4. doi:10.1097/GIM.0b013e318156e68e. PMID 18073582.
Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM (Jun 2009). "Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome". Human Molecular Genetics. 18 (11): 1909–23. doi:10.1093/hmg/ddp112. PMC2678924. PMID 19279158.
Buck, Cassandra; Balasubramanian, Ravikumar; Crowley, Jr, William F (2013-07-18). Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. University of Washington, Seattle. PMID 20301509. NBK1334. In Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301295.
Lalani SR, Hefner MA, Belmont JW, Davenport SL (2012-02-02). "CHD7 Disorder". CHARGE Syndrome. University of Washington, Seattle. PMID 20301296. NBK1117. In GeneReviews
Bardakjian T, Weiss A, Schneider AS (2006-05-26). "Microphthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Anophthalmia/Microphthalmia Overview. University of Washington, Seattle. PMID 20301552. NBK1378. In GeneReviews
Human CHD7 genome location and CHD7 gene details page in the UCSC Genome Browser.
January 01, 1970
chd7, chromodomain, helicase, binding, protein, dependent, chromatin, nucleosome, remodeling, factor, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2ckc, 2v0e, 2v0fidentifiersaliases, kal5, chromodomain, helicase, . Chromodomain helicase DNA binding protein 7 is an ATP dependent chromatin or nucleosome remodeling factor 5 that in humans is encoded by the CHD7 gene 6 7 CHD7Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2CKC 2V0E 2V0FIdentifiersAliasesCHD7 CRG HH5 IS3 KAL5 chromodomain helicase DNA binding protein 7External IDsOMIM 608892 MGI 2444748 HomoloGene 19067 GeneCards CHD7Gene location Human Chr Chromosome 8 human 1 Band8q12 2Start60 678 740 bp 1 End60 868 028 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 A1 4 3 68 cMStart8 690 406 bp 2 End8 867 659 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocytecerebellar vermissural nerveinferior ganglion of vagus nerveexternal globus pallidussubthalamic nucleusventral tegmental areaembryocerebellar hemispherepylorusTop expressed inexternal carotid arteryinternal carotid arterysecondary oocytecerebellar cortexprimitive streaklenscerebellar vermisbloodhair folliclerenal corpuscleMore reference expression dataBioGPSn aGene ontologyMolecular functionnucleotide binding DNA binding helicase activity chromatin binding RNA polymerase II cis regulatory region sequence specific DNA binding hydrolase activity acting on acid anhydrides protein binding hydrolase activity ATP binding promoter specific chromatin bindingCellular componentnucleus nucleoplasm nucleolusBiological processskeletal system development olfactory behavior semicircular canal morphogenesis regulation of transcription DNA templated cognition locomotory behavior adult heart development cranial nerve development heart morphogenesis olfactory nerve development in utero embryonic development sensory perception of sound blood circulation transcription DNA templated epithelium development genitalia development limb development ear morphogenesis regulation of growth hormone secretion central nervous system development T cell differentiation face development blood vessel development retina development in camera type eye inner ear morphogenesis artery morphogenesis positive regulation of multicellular organism growth rRNA processing camera type eye development olfactory bulb development nose development female genitalia development regulation of neurogenesis adult walking behavior embryonic hindlimb morphogenesis ventricular trabecula myocardium morphogenesis tissue remodeling aorta morphogenesis positive regulation of transcription by RNA polymerase II right ventricular compact myocardium morphogenesis regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum aorta development atrioventricular canal development blood vessel remodeling chromatin remodeling cardiac septum morphogenesis innervation chromatin organization roof of mouth development secondary palate development response to bacteriumSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez55636320790EnsemblENSG00000171316ENSMUSG00000041235UniProtQ9P2D1A2AJK6RefSeq mRNA NM 017780NM 001316690NM 017783NM 001033395NM 001081417NM 001277149NM 001355382RefSeq protein NP 001303619NP 060250NP 001264078NP 001342311Location UCSC Chr 8 60 68 60 87 MbChr 4 8 69 8 87 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse CHD7 is an ATP dependent chromatin remodeler homologous to the Drosophila trithorax group protein Kismet 8 Mutations in CHD7 are associated with CHARGE syndrome 9 This protein belongs to a larger group of ATP dependent chromatin remodeling complexes the CHD subfamily Contents 1 Clinical 2 References 3 Further reading 4 External linksClinical editMutations in this gene have been associated with the CHARGE syndrome References edit a b c GRCh38 Ensembl release 89 ENSG00000171316 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000041235 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Bouazoune K Kingston RE 20 November 2012 Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders Proceedings of the National Academy of Sciences of the United States of America 109 47 19238 43 Bibcode 2012PNAS 10919238B doi 10 1073 pnas 1213825109 PMC 3511097 PMID 23134727 Nagase T Kikuno R Ishikawa KI Hirosawa M Ohara O Feb 2000 Prediction of the coding sequences of unidentified human genes XVI The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro DNA Research 7 1 65 73 doi 10 1093 dnares 7 1 65 PMID 10718198 Entrez Gene chromodomain helicase DNA binding protein 7 Bajpai R Chen DA Rada Iglesias A Zhang J Xiong Y Helms J Chang CP Zhao Y Swigut T Wysocka J Feb 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation Nature 463 7283 958 62 Bibcode 2010Natur 463 958B doi 10 1038 nature08733 PMC 2890258 PMID 20130577 Vissers LE van Ravenswaaij CM Admiraal R Hurst JA de Vries BB Janssen IM van der Vliet WA Huys EH de Jong PJ Hamel BC Schoenmakers EF Brunner HG Veltman JA van Kessel AG Sep 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Nature Genetics 36 9 955 7 doi 10 1038 ng1407 PMID 15300250 Further reading editDelahaye A Sznajer Y Lyonnet S Elmaleh Berges M Delpierre I Audollent S Wiener Vacher S Mansbach AL Amiel J Baumann C Bremond Gignac D Attie Bitach T Verloes A Sanlaville D Aug 2007 Familial CHARGE syndrome because of CHD7 mutation clinical intra and interfamilial variability Clinical Genetics 72 2 112 21 doi 10 1111 j 1399 0004 2007 00821 x PMID 17661815 S2CID 8143298 Van de Laar I Dooijes D Hoefsloot L Simon M Hoogeboom J Devriendt K Nov 2007 Limb anomalies in patients with CHARGE syndrome an expansion of the phenotype American Journal of Medical Genetics Part A 143A 22 2712 5 doi 10 1002 ajmg a 32008 PMID 17937444 S2CID 21353716 Holak HM Kohlhase J Holak SA Holak NH Jun 2008 New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene Ophthalmic Genetics 29 2 79 84 doi 10 1080 13816810801918391 PMID 18484313 S2CID 205807551 Sanlaville D Verloes A Apr 2007 CHARGE syndrome an update European Journal of Human Genetics 15 4 389 99 doi 10 1038 sj ejhg 5201778 PMID 17299439 Kim HG Kurth I Lan F Meliciani I Wenzel W Eom SH Kang GB Rosenberger G Tekin M Ozata M Bick DP Sherins RJ Walker SL Shi Y Gusella JF Layman LC Oct 2008 Mutations in CHD7 encoding a chromatin remodeling protein cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome American Journal of Human Genetics 83 4 511 9 doi 10 1016 j ajhg 2008 09 005 PMC 2561938 PMID 18834967 Dagle JM Lepp NT Cooper ME Schaa KL Kelsey KJ Orr KL Caprau D Zimmerman CR Steffen KM Johnson KJ Marazita ML Murray JC Apr 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants Pediatrics 123 4 1116 23 doi 10 1542 peds 2008 0313 PMC 2734952 PMID 19336370 Wincent J Schulze A Schoumans J 2009 Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype European Journal of Medical Genetics 52 4 271 2 doi 10 1016 j ejmg 2009 02 005 PMID 19248844 Wincent J Holmberg E Stromland K Soller M Mirzaei L Djureinovic T Robinson K Anderlid B Schoumans J Jul 2008 CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome Clinical Genetics 74 1 31 8 doi 10 1111 j 1399 0004 2008 01014 x PMID 18445044 S2CID 205406725 Gennery AR Slatter MA Rice J Hoefsloot LH Barge D McLean Tooke A Montgomery T Goodship JA Burt AD Flood TJ Abinun M Cant AJ Johnson D Jul 2008 Mutations in CHD7 in patients with CHARGE syndrome cause T B natural killer cell severe combined immune deficiency and may cause Omenn like syndrome Clinical and Experimental Immunology 153 1 75 80 doi 10 1111 j 1365 2249 2008 03681 x PMC 2432100 PMID 18505430 Tellier AL Cormier Daire V Abadie V Amiel J Sigaudy S Bonnet D de Lonlay Debeney P Morrisseau Durand MP Hubert P Michel JL Jan D Dollfus H Baumann C Labrune P Lacombe D Philip N LeMerrer M Briard ML Munnich A Lyonnet S Apr 1998 CHARGE syndrome report of 47 cases and review American Journal of Medical Genetics 76 5 402 9 doi 10 1002 SICI 1096 8628 19980413 76 5 lt 402 AID AJMG7 gt 3 0 CO 2 O PMID 9556299 Jongmans MC van Ravenswaaij Arts CM Pitteloud N Ogata T Sato N Claahsen van der Grinten HL van der Donk K Seminara S Bergman JE Brunner HG Crowley WF Hoefsloot LH Jan 2009 CHD7 mutations in patients initially diagnosed with Kallmann syndrome the clinical overlap with CHARGE syndrome Clinical Genetics 75 1 65 71 doi 10 1111 j 1399 0004 2008 01107 x PMC 2854009 PMID 19021638 Jongmans MC Hoefsloot LH van der Donk KP Admiraal RJ Magee A van de Laar I Hendriks Y Verheij JB Walpole I Brunner HG van Ravenswaaij CM Jan 2008 Familial CHARGE syndrome and the CHD7 gene a recurrent missense mutation intrafamilial recurrence and variability American Journal of Medical Genetics Part A 146A 1 43 50 doi 10 1002 ajmg a 31921 PMID 18074359 S2CID 24479591 Vuorela PE Penttinen MT Hietala MH Laine JO Huoponen KA Kaariainen HA Oct 2008 A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features Clinical Dysmorphology 17 4 249 53 doi 10 1097 MCD 0b013e328306a704 PMID 18978652 S2CID 35257043 Bergman JE de Wijs I Jongmans MC Admiraal RJ Hoefsloot LH van Ravenswaaij Arts CM 2008 Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE like syndrome European Journal of Medical Genetics 51 5 417 25 doi 10 1016 j ejmg 2008 03 003 PMID 18472328 Lee YW Kim SC Shin YL Kim JW Hong HS Lee YK Ki CS Mar 2009 Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome Clinical Genetics 75 3 290 3 doi 10 1111 j 1399 0004 2008 01127 x PMID 19159393 S2CID 43480931 Qi Q Yi L Yang C Chen H Shen L Mo X Hu Y Wang Y Dec 2008 Mutation analysis of the CHD7 gene in patients with congenital heart disease Zhonghua Yi Xue Yi Chuan Xue Za Zhi Zhonghua Yixue Yichuanxue Zazhi Chinese Journal of Medical Genetics 25 6 637 41 PMID 19065520 Writzl K Cale CM Pierce CM Wilson LC Hennekam RC 2007 Immunological abnormalities in CHARGE syndrome European Journal of Medical Genetics 50 5 338 45 doi 10 1016 j ejmg 2007 05 002 PMID 17684005 Nakajima D Okazaki N Yamakawa H Kikuno R Ohara O Nagase T Jun 2002 Construction of expression ready cDNA clones for KIAA genes manual curation of 330 KIAA cDNA clones DNA Research 9 3 99 106 doi 10 1093 dnares 9 3 99 PMID 12168954 Vuorela P Ala Mello S Saloranta C Penttinen M Poyhonen M Huoponen K Borozdin W Bausch B Botzenhart EM Wilhelm C Kaariainen H Kohlhase J Oct 2007 Molecular analysis of the CHD7 gene in CHARGE syndrome identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions Genetics in Medicine 9 10 690 4 doi 10 1097 GIM 0b013e318156e68e PMID 18073582 Layman WS McEwen DP Beyer LA Lalani SR Fernbach SD Oh E Swaroop A Hegg CC Raphael Y Martens JR Martin DM Jun 2009 Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome Human Molecular Genetics 18 11 1909 23 doi 10 1093 hmg ddp112 PMC 2678924 PMID 19279158 Buck Cassandra Balasubramanian Ravikumar Crowley Jr William F 2013 07 18 Isolated Gonadotropin Releasing Hormone GnRH Deficiency University of Washington Seattle PMID 20301509 NBK1334 In Adam MP Everman DB Mirzaa GM Pagon RA Wallace SE Bean LJH Gripp KW Amemiya A 1993 Pagon RA Bird TD Dolan CR eds GeneReviews Seattle WA University of Washington Seattle PMID 20301295 Lalani SR Hefner MA Belmont JW Davenport SL 2012 02 02 CHD7 Disorder CHARGE Syndrome University of Washington Seattle PMID 20301296 NBK1117 In GeneReviews Bardakjian T Weiss A Schneider AS 2006 05 26 Microphthalmia Anophthalmia Coloboma Spectrum RETIRED CHAPTER FOR HISTORICAL REFERENCE ONLY Anophthalmia Microphthalmia Overview University of Washington Seattle PMID 20301552 NBK1378 In GeneReviewsExternal links editCHD7 protein human at the U S National Library of Medicine Medical Subject Headings MeSH Human CHD7 genome location and CHD7 gene details page in the UCSC Genome Browser Retrieved from https en wikipedia org w index php title CHD7 amp oldid 1190647651, wikipedia, wiki, book, books, library,
