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Mutation of a type II keratin gene (K6a) in pachyonychia congenita

✍ Scribed by Bowden, Paul E.; Haley, Joanne L.; Kansky, Aleksej; Rothnagel, Joseph A.; Jones, David O.; Turner, Richard J.

Book ID: 109916480
Publisher: Nature Publishing Group
Year: 1995
Tongue: English
Weight: 652 KB
Volume: 10
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0795-363

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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