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Type: Artigo de periódico
Title: Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
Author: Oliveira, Gisele Viana de
Steiner, Carlos Eduardo
Cintra, Maria Letícia
Marques-de-Faria, Antonia Paula
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.
Subject: deafness
knuckle pads
palmoplantar keratoderma
Bart-Pumphrey syndrome
Editor: Sociedade Brasileira de Genética
Citation: Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 26, n. 2, p. 129-131, 2003.
Rights: aberto
Identifier DOI: 10.1590/S1415-47572003000200004
Date Issue: 1-Jan-2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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