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A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH

✍ Scribed by Dias, Cristina; Basto, Jorge; Pinho, Odilia; Barbêdo, Carla; Mártins, Marcia; Bornholdt, Dorothea; Fortuna, Ana; Grzeschik, Karl-Heinz; Lima, Margarida


Book ID
124168798
Publisher
Informa plc
Year
2010
Tongue
English
Weight
687 KB
Volume
29
Category
Article
ISSN
1551-3815

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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