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Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome

✍ Scribed by H. Fassihi; J. Grace; A. Lashwood; N.V. Whittock; P.R. Braude; S.J. Pickering; J.A. McGrath

Book ID
108668656
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
172 KB
Volume
154
Category
Article
ISSN
0007-0963

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✍ Alan R. Thornhill; Susan J. Pickering; Neil V. Whittock; Jenny Caller; Vicky And 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB 👁 2 views

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