Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
Genet. mol. biol
;
26(2): 129-131, Jun. 2003. ilus
Article
in English
| 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
Full text:
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Index:
LILACS (Americas)
Main subject:
Keratoderma, Palmoplantar
/
Deafness
/
Finger Joint
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2003
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Católica de Campinas/BR
/
Universidade Estadual de Campinas/BR
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