Below are the most recent publications written about "Ectodermal Dysplasia" by people in Profiles.
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Doolan BJ, Onoufriadis A, Kantaputra P, McGrath JA. WNT10A, dermatology and dentistry. Br J Dermatol. 2021 12; 185(6):1105-1111.
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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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Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC. Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants. Am J Med Genet A. 2019 08; 179(8):1547-1555.
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Valentin MN, Solomon BD, Richard G, Ferreira CR, Kirkorian AY. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. Am J Med Genet A. 2018 11; 176(11):2451-2455.
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Smith FJD, McLean WHI. Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism. J Dermatol. 2017 12; 44(12):e312.
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Xu M, Horrell J, Snitow M, Cui J, Gochnauer H, Syrett CM, Kallish S, Seykora JT, Liu F, Gaillard D, Katz JP, Kaestner KH, Levin B, Mansfield C, Douglas JE, Cowart BJ, Tordoff M, Liu F, Zhu X, Barlow LA, Rubin AI, McGrath JA, Morrisey EE, Chu EY, Millar SE. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. Nat Commun. 2017 06 07; 8:15397.
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Hsu CK, Liu L, Can PK, Kocat?rk E, McMillan JR, G?ng?r S, H?rdogan ?, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. J Dermatol Sci. 2016 Nov; 84(2):210-212.
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Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). Turk J Pediatr. 2015 Jul-Aug; 57(4):385-387.
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Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 04; 95(3):308-14.
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Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 2013 Nov; 161A(11):2762-76.