Article
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
European journal of pediatrics - 1 Oct 2009
Cogulu Ozgur, Onay Huseyin, Aykut Ayca, Wilson Neil J, Smith Frances J D, Dereli Tugrul, Ozkinay Ferda
Abstract excerpt
Pachyonychia congenita (PC) type 2 is a rare inherited genetic disease characterized by hypertrophic nail dystrophy, palmoplantar hyperkeratosis and multiple pilosebaceous cysts. In some cases, natal teeth and hair abnormalities may be present. It is caused by mutations in keratin 17 or its expression partner keratin 6b. Here, an N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type...
Topics
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Keratin-17
- Mutation
- Pachyonychia Congenita
- Pedigree
- Phenotype