Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.[2]: 576
^"Mandibuloacral dysplasia". Genetic and Rare Diseases. NIH. Retrieved 19 March 2019.
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN0-7216-2921-0.
^Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC3476705. PMID 22549407.
^ Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S (2012). "Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity". Hum Mol Genet. 21 (18): 4084–93. doi:10.1093/hmg/dds233. PMC3428156. PMID 22718200.
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mandibuloacral, dysplasia, rare, autosomal, recessive, syndrome, characterized, mandibular, hypoplasia, delayed, cranial, suture, closure, dysplastic, clavicles, abbreviated, club, shaped, terminal, phalanges, acroosteolysis, atrophy, skin, hands, feet, typica. Mandibuloacral dysplasia MAD is a rare autosomal recessive syndrome characterized by mandibular hypoplasia delayed cranial suture closure dysplastic clavicles abbreviated and club shaped terminal phalanges acroosteolysis atrophy of the skin of the hands and feet and typical facial changes 2 576 Mandibuloacral dysplasiaOther namesMAD 1 Contents 1 Types 2 See also 3 References 4 External linksTypes EditType OMIM Gene LocusMADA 248370 LMNA 3 1q21 2MADB 608612 ZMPSTE24 4 1p34See also EditHereditary sclerosing poikiloderma Skin lesionReferences Edit Mandibuloacral dysplasia Genetic and Rare Diseases NIH Retrieved 19 March 2019 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders ISBN 0 7216 2921 0 Al Haggar M Madej Pilarczyk A Kozlowski L Bujnicki JM Yahia S Abdel Hadi D Shams A Ahmad N Hamed S Puzianowska Kuznicka M 2012 A novel homozygous p Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome Eur J Hum Genet 20 11 1134 40 doi 10 1038 ejhg 2012 77 PMC 3476705 PMID 22549407 Barrowman J Wiley PA Hudon Miller SE Hrycyna CA Michaelis S 2012 Human ZMPSTE24 disease mutations residual proteolytic activity correlates with disease severity Hum Mol Genet 21 18 4084 93 doi 10 1093 hmg dds233 PMC 3428156 PMID 22718200 External links EditThis Genodermatoses article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Mandibuloacral dysplasia amp oldid 1075562127, wikipedia, wiki, book, books, library,
