A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report
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DOI: 10.1159/000487580
Abstract: Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal… read more here.
Keywords: novel porcn; porcn frameshift; focal dermal; dermal hypoplasia ... See more keywords