Novel proline substitution mutations in
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F.J.D. Smith; M. Del Monaco; P.M. Steijlen; C.S. Munro; M. Morvay; C.M. Coleman;
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Article
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1999
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John Wiley and Sons
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English
β 636 KB
Pachyonychia congenita (PC) is a group of inherited ectodermal dysplasias, the characteristic phenotype being hypertrophic nail dystrophy. Two main clinical subtypes, PC-1 and PC-2, are inherited as autosomal dominant disorders, but other less well characterized clinical forms also exist. The PC-1 p