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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
2002-1-11
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0197-3851
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2001 John Wiley & Sons, Ltd.
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1119-22
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:11787035-Adult,
pubmed-meshheading:11787035-Chromosomes, Human, Pair 3,
pubmed-meshheading:11787035-DNA-Binding Proteins,
pubmed-meshheading:11787035-Fathers,
pubmed-meshheading:11787035-Female,
pubmed-meshheading:11787035-Foot Deformities, Congenital,
pubmed-meshheading:11787035-Genes, Tumor Suppressor,
pubmed-meshheading:11787035-Gestational Age,
pubmed-meshheading:11787035-Hand Deformities, Congenital,
pubmed-meshheading:11787035-Humans,
pubmed-meshheading:11787035-Male,
pubmed-meshheading:11787035-Membrane Proteins,
pubmed-meshheading:11787035-Mutation, Missense,
pubmed-meshheading:11787035-Phosphoproteins,
pubmed-meshheading:11787035-Pregnancy,
pubmed-meshheading:11787035-Trans-Activators,
pubmed-meshheading:11787035-Transcription Factors,
pubmed-meshheading:11787035-Tumor Suppressor Proteins,
pubmed-meshheading:11787035-Ultrasonography, Prenatal
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pubmed:year |
2001
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pubmed:articleTitle |
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
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pubmed:affiliation |
Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
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