Article
Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
The British journal of dermatology - 1 Nov 2014
Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth E K, Mellerio J E, McGrath J A
Abstract excerpt
BACKGROUND: Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A. OBJECTIVES: To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS. METHODS: Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A....
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