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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Onoufriadis A, Cabezas A, Ng JCF, Canales J, Costas MJ, Ribeiro JM, Rodrigues JR, McAleer MA, Castelo-Soccio L, Simpson MA, Fraternali F, Irvine AD, Cameselle JC, McGrath JA. Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations. Br J Dermatol. 2021 05; 184(5):935-943.
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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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Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Mol Genet Genomic Med. 2019 11; 7(11):e975.
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Youssefian L, Touati A, Saeidian AH, Zargari O, Zeinali S, Vahidnezhad H, Uitto J. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017 12 06; 12(1):176.
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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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Post ZD, Orozco FR, Ong AC. Metal sensitivity after TKA presenting with systemic dermatitis and hair loss. Orthopedics. 2013 Apr; 36(4):e525-8.