𝔖 Bobbio Scriptorium
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Focal Dermal Hypoplasia with Unusual Cutaneous Features

✍ Scribed by María A. Maymí; Rafael F. Martín-García


Book ID
109090384
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
646 KB
Volume
24
Category
Article
ISSN
0736-8046

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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