期刊论文详细信息
Genetics and Molecular Biology | |
Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome | |
Gisele Viana De Oliveira2  Carlos Eduardo Steiner1  Maria Letícia Cintra1  Antonia Paula Marques-de-faria1  | |
[1] ,Universidade Católica de Campinas Faculdade de Ciências Médicas Departamento de DermatologiaCampinas SP ,Brazil | |
关键词: deafness; knuckle pads; palmoplantar keratoderma; hyperkeratosis; Bart-Pumphrey syndrome; | |
DOI : 10.1590/S1415-47572003000200004 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
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