Article
Intrafamilial clinical variability in type C brachydactyly.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2001
Debeer P, De Smet L, Fryns J P
Abstract excerpt
Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of brachydactyly type C. The observation of 'skipped generations' in the present family and in a few other families reported previously, may indicate that brachydactyly type C is not a true autosomal dominant condition due to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.