| Literature DB >> 8370149 |
D M Ioan1, V Belengeanu, C Maximilian, J P Fryns.
Abstract
A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).Entities:
Mesh:
Year: 1993 PMID: 8370149 DOI: 10.1111/j.1399-0004.1993.tb03822.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438