| pubmed-article:11787035 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11787035 | lifeskim:mentions | umls-concept:C0000768 | lld:lifeskim |
| pubmed-article:11787035 | lifeskim:mentions | umls-concept:C0337493 | lld:lifeskim |
| pubmed-article:11787035 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:11787035 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11787035 | lifeskim:mentions | umls-concept:C1422009 | lld:lifeskim |
| pubmed-article:11787035 | pubmed:issue | 13 | lld:pubmed |
| pubmed-article:11787035 | pubmed:dateCreated | 2002-1-11 | lld:pubmed |
| pubmed-article:11787035 | 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. | lld:pubmed |
| pubmed-article:11787035 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11787035 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11787035 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11787035 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:11787035 | pubmed:issn | 0197-3851 | lld:pubmed |
| pubmed-article:11787035 | pubmed:author | pubmed-author:WitternRR | lld:pubmed |
| pubmed-article:11787035 | pubmed:author | pubmed-author:FrynsJ PJP | lld:pubmed |
| pubmed-article:11787035 | pubmed:author | pubmed-author:Van AsscheF... | lld:pubmed |
| pubmed-article:11787035 | pubmed:author | pubmed-author:GoossensAA | lld:pubmed |
| pubmed-article:11787035 | pubmed:author | pubmed-author:Van... | lld:pubmed |
| pubmed-article:11787035 | pubmed:copyrightInfo | Copyright 2001 John Wiley & Sons, Ltd. | lld:pubmed |
| pubmed-article:11787035 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11787035 | pubmed:volume | 21 | lld:pubmed |
| pubmed-article:11787035 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11787035 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11787035 | pubmed:pagination | 1119-22 | lld:pubmed |
| pubmed-article:11787035 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:11787035 | pubmed:meshHeading | pubmed-meshheading:11787035... | lld:pubmed |
| pubmed-article:11787035 | pubmed:meshHeading | pubmed-meshheading:11787035... | lld:pubmed |
| pubmed-article:11787035 | pubmed:meshHeading | pubmed-meshheading:11787035... | lld:pubmed |
| pubmed-article:11787035 | pubmed:meshHeading | pubmed-meshheading:11787035... | lld:pubmed |
| pubmed-article:11787035 | pubmed:meshHeading | pubmed-meshheading:11787035... | lld:pubmed |
| pubmed-article:11787035 | pubmed:meshHeading | pubmed-meshheading:11787035... | lld:pubmed |
| pubmed-article:11787035 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11787035 | pubmed:articleTitle | Split-hand/split-foot malformation with paternal mutation in the p63 gene. | lld:pubmed |
| pubmed-article:11787035 | pubmed:affiliation | Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium. | lld:pubmed |
| pubmed-article:11787035 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11787035 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:8626 | entrezgene:pubmed | pubmed-article:11787035 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:11787035 | lld:entrezgene |
