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Intrafamilial clinical variability in type C brachydactyly
P Debeer1, L De Smet, J P Fryns
1Center for Human Genetics, University of Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be
Genetic Counseling (Geneva, Switzerland)
|February 12, 2002
Abstract:
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.