Article
Novel PORCN mutations in focal dermal hypoplasia.
Clinical genetics - 1 Dec 2009
Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi M-L, Heikkilä H, Torniainen S, Devriendt K, Fryns J-P, Marynen P, Järvelä I, Ala-Mello S
Abstract excerpt
Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next,...
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