Below are the most recent publications written about "Keratoderma, Palmoplantar" by people in Profiles.
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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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Zhang A, Duchatelet S, Lakdawala N, Tower RL, Diamond C, Marathe K, Hill I, Richard G, Diab Y, Kirkorian AY, Watanabe F, Siegel DH, Hovnanian A. Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. JAMA Dermatol. 2020 02 01; 156(2):196-200.
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Lee JYW, Farag A, Tawdy A, Liu L, Michael M, Rashidghamat E, Aristodemou S, Hsu CK, Simpson MA, Parsons M, McGrath JA. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. J Dermatol Sci. 2018 Feb; 89(2):198-201.
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Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fern?ndez-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a?Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017 11; 137(11):2344-2353.
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Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA. Sch?pf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. Australas J Dermatol. 2011 Aug; 52(3):224-6.
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Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol. 2004 Nov; 123(5):856-63.
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Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May; 122(5):1108-13.
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Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol. 2002 Sep; 119(3):692-8.
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Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May; 118(5):838-44.