| Literature DB >> 3978843 |
R T Pilarski, R M Pauli, G H Bresnick, R M Lebovitz.
Abstract
A family with four members with split foot/split hand malformations and congenital nystagmus is described. The clinical characteristics in this family correspond to those seen in two other families previously reported. Taken together, these three families suggest that a single, pleiotropic dominant gene is causal. Karsch-Neugebauer syndrome is suggested as an appropriate eponymic designation for this disorder.Entities:
Mesh:
Year: 1985 PMID: 3978843 DOI: 10.1111/j.1399-0004.1985.tb00191.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438