Below are the most recent publications written about "Skin Abnormalities" by people in Profiles.
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Doolan BJ, McGrath JA, Mellerio JE. Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper. Br J Dermatol. 2024 02 16; 190(3):340-342.
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Sklar BA, Pisuchpen P, Bareket M, Milman T, Eagle RC, Minor J, Procopio R, Capasso J, Levin AV, Hammersmith K. Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. Cornea. 2023 Dec 01; 42(12):1572-1577.
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Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G, McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 01 23; 188(1):75-83.
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Prodinger C, Chottianchaiwat S, Mellerio JE, McGrath JA, Ozoemena L, Liu L, Moore W, Laimer M, Petrof G, Martinez AE. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review. Pediatr Dermatol. 2021 Sep; 38(5):1094-1101.
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Dahan-Oliel N, Dieterich K, Rauch F, Bardai G, Blondell TN, Gustafson AG, Hamdy R, Latypova X, Shazand K, Giampietro PF, van Bosse H. The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children. Genes (Basel). 2021 08 06; 12(8).
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Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biol. 2021 05; 99:43-57.
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Takeichi T, Nanda A, Yang HS, Hsu CK, Lee JY, Al-Ajmi H, Akiyama M, Simpson MA, McGrath JA. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. Br J Dermatol. 2017 02; 176(2):534-536.
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Shah M, Lee G, Lefebvre DR, Kronberg B, Loomis S, Brauner SC, Turalba A, Rhee DJ, Freitag SK, Pasquale LR. A cross-sectional survey of the association between bilateral topical prostaglandin analogue use and ocular adnexal features. PLoS One. 2013; 8(5):e61638.
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Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol. 2010 Apr; 130(4):968-78.
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Hobson GM, Gibson CW, Aragon M, Yuan ZA, Davis-Williams A, Banser L, Kirkham J, Brook AH. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A. 2009 Aug; 149A(8):1698-705.