Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
Genet. mol. biol
;
26(2): 129-131, Jun. 2003. ilus
Artículo
en Inglés
| LILACS
| ID: lil-345961
ABSTRACT
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Queratodermia Palmoplantar
/
Sordera
/
Articulaciones de los Dedos
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Genet. mol. biol
Asunto de la revista:
Genética
Año:
2003
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Católica de Campinas/BR
/
Universidade Estadual de Campinas/BR
Similares
MEDLINE
...
LILACS
LIS