Below are the most recent publications written about "Hypotrichosis" by people in Profiles.
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Rayinda T, McSweeney SM, Fassihi H, Fenton D, Liu L, Stefanato CM, Dand N, McGrath JA, Tziotzios C. A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex. Clin Exp Dermatol. 2023 07 07; 48(7):840-843.
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Rayinda T, McSweeney SM, Lalagianni N, Liu L, Guy A, Fenton D, Stefanato CM, Dand N, McGrath JA, Tziotzios C. Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN. Clin Exp Dermatol. 2023 04 27; 48(5):579-583.
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Doolan BJ, Gomaa NS, Fawzy MM, Dogheim NN, Liu L, Mellerio JE, Onoufriadis A, McGrath JA. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. Exp Dermatol. 2020 06; 29(6):520-530.
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Onoufriadis A, Ahmed N, Bessar H, Guy A, Liu L, Marantzidis A, Kesidou E, Papanikolaou M, Simpson MA, Mellerio JE, Lee JYW, McGrath JA. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis. J Invest Dermatol. 2020 06; 140(6):1285-1288.
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Boente Mdel C, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP. Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP. Br J Dermatol. 2016 Sep; 175(3):644-6.
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Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, McGrath JA. Clinical features and WNT10A mutations in seven unrelated cases of Sch?pf-Schulz-Passarge syndrome. Br J Dermatol. 2014 Nov; 171(5):1211-4.
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Granger RH, Marshman G, Liu L, McGrath JA. Late diagnosis of ectodermal dysplasia syndrome. Australas J Dermatol. 2013 Feb; 54(1):46-8.
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Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, N?then MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009 Feb; 41(2):228-33.
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McGrath JA, Wessagowit V. Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med. 2005 Jun; 54(2):72-9.
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van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet. 1999 Aug; 65(2):413-9.