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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

โœ Scribed by McLean, W.H.I.; Rugg, E.L.; Lunny, D.P.; Morley, S.M.; Lane, E.B.; Swensson, O.; Dopping-Hepenstal, P.J.C.; Griffiths, W.A.D.; Eady, R.A.J.; Higgins, C.


Book ID
109915414
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
870 KB
Volume
9
Category
Article
ISSN
1061-4036

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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