Genet Couns. 2001;12(4):353-8.

Intrafamilial clinical variability in type C brachydactyly.

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Center for Human Genetics, University of Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be

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.

PMID:: 11837604; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

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