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A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1

✍ Scribed by H-L Zhou; S Yang; M Gao; X-Y Zhao; Y-G Zhu; W Li; Y-Q Ren; Y-H Liang; W-H Du; X-J Zhang


Book ID
111094839
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
129 KB
Volume
21
Category
Article
ISSN
0926-9959

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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