A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.
García-Rio
I
I
Department of Dermatology, Hospital Universitario de la Princesa, Diego de León 62, 28006 Madrid, Spain.
Peñas
P F
PF
García-Díez
A
A
McLean
W H I
WH
Smith
F J D
FJ
D000328:Adult; D000595:Amino Acid Sequence; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D007642:Keratosis / Q000235:genetics; D009059:Mouth Diseases / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics; D011392:Proline / Q000235:genetics*; D013577:Syndrome
D007633:Keratins; D011392:Proline