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Title: Split-hand/split-foot malformation with paternal mutation in the p63 gene
Authors: Witters, Ingrid
Van Bokhoven, H
Goossens, A
Van Assche, Frans Andre
Fryns, Jean-Pierre #
Issue Date: Jan-2002
Series Title: Prenatal Diagnosis vol:21 issue:13 pages:1119-22
Abstract: We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I-II; cleft II-III; left cutaneous syndactyly III-IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A-->G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A-->G (predicting amino acid substitution K194E) in a family with SHSFM.
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Woman - Miscellaneous (-)
Clinical Genetics Section (-)
Clinical Genetics
Faculty of Medicine - miscellaneous
Department of Human Genetics - miscellaneous
# (joint) last author

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