Abstract
A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.
Original language | English (US) |
---|---|
Pages (from-to) | 68-71 |
Number of pages | 4 |
Journal | Journal of medical genetics |
Volume | 31 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1994 |
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)