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Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

✍ Scribed by Aaron E Boyce; John A McGrath; Tanasit Techanukul; Dédée F Murrell; Chung Wo Chow; Lesley McGregor; Lachlan J Warren

Book ID
108929149
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
926 KB
Volume
53
Category
Article
ISSN
0004-8380

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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