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PORCN gene mutations and the protean nature of focal dermal hypoplasia

✍ Scribed by S.E. Clements; J.E. Mellerio; S.T. Holden; J. McCauley; J.A. McGrath

Book ID
108670502
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
760 KB
Volume
160
Category
Article
ISSN
0007-0963

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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