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Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

✍ Scribed by Sibel Ersoy-Evans; Gül Erkin; Hiva Fassihi; Ien Chan; Amy S. Paller; Selçuk Sürücü; John A. McGrath

Book ID: 116581361
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 251 KB
Volume: 55
Category: Article
ISSN: 1097-6787
DOI: 10.1016/j.jaad.2005.10.002

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A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase