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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

✍ Scribed by P Leoyklang; K Suphapeetiporn; S Wananukul; V Shotelersuk

Book ID
110888572
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
430 KB
Volume
73
Category
Article
ISSN
0009-9163

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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