Title: Intrafamilial clinical variability in type C brachydactyly
Authors: Debeer, Philippe ×
De Smet, Luc
Fryns, Jean-Pierre #
Issue Date: 2001
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:12 issue:4 pages:353-358
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.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group for Musculoskeletal Rehabilitation
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Orthopaedics Section (-)
× corresponding author
# (joint) last author

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