Intrafamilial clinical variability in type C brachydactyly.
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 mutations in a single gene.
Debeer
P
P
Center for Human Genetics, University of Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be
De Smet
L
L
Fryns
J P
JP
D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011859:Radiography