𝔖 Bobbio Scriptorium
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A novel PORCN mutation in focal dermal hypoplasia

Book ID
116587444
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
39 KB
Volume
64
Category
Article
ISSN
1097-6787

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The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrel