Thanatophoric dysplasia type I with synd
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Brodie, Steven G.; Kitoh, Hiroshi; Lipson, Mark; Sifry-Platt, Mara; Wilcox, Will
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Article
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1998
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John Wiley and Sons
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English
β 11 KB
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We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs