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A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a

✍ Scribed by I. García-Rio; P.F. Peñas; A. García-Díez; W.H.I. McLean; F.J.D. Smith


Book ID
108668045
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
231 KB
Volume
152
Category
Article
ISSN
0007-0963

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Novel proline substitution mutations in
✍ F.J.D. Smith; M. Del Monaco; P.M. Steijlen; C.S. Munro; M. Morvay; C.M. Coleman; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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