|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0031437,
umls-concept:C0039082,
umls-concept:C0158646,
umls-concept:C0205314,
umls-concept:C0243067,
umls-concept:C0332281,
umls-concept:C0339182,
umls-concept:C0521458,
umls-concept:C0549419,
umls-concept:C0679622,
umls-concept:C1422009
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|
pubmed:issue |
12
|
|
pubmed:dateCreated |
2005-12-20
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|
pubmed:abstractText |
Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the sterile alpha motif region of TP63, a homologue of the tumor suppressor TP53. Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes.
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|
pubmed:commentsCorrections |
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
0003-987X
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|
pubmed:author |
pubmed-author:CamachoJeanetteJ,
pubmed-author:HeymannWarren RWR,
pubmed-author:HonigPaul JPJ,
pubmed-author:IlyasErumE,
pubmed-author:ImaizumiSoniaS,
pubmed-author:LiWeijieW,
pubmed-author:PawelBruce RBR,
pubmed-author:PayneAimee SAS,
pubmed-author:SchnurRhonda ERE,
pubmed-author:SeykoraJohn TJT,
pubmed-author:YanAlbert CAC,
pubmed-author:YoungTerri LTL
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|
pubmed:issnType |
Print
|
|
pubmed:volume |
141
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
1567-73
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:16365259-Abnormalities, Multiple,
pubmed-meshheading:16365259-Arginine,
pubmed-meshheading:16365259-Cleft Lip,
pubmed-meshheading:16365259-Cleft Palate,
pubmed-meshheading:16365259-DNA-Binding Proteins,
pubmed-meshheading:16365259-Ectodermal Dysplasia,
pubmed-meshheading:16365259-Female,
pubmed-meshheading:16365259-Genes, Tumor Suppressor,
pubmed-meshheading:16365259-Genotype,
pubmed-meshheading:16365259-Humans,
pubmed-meshheading:16365259-Immunohistochemistry,
pubmed-meshheading:16365259-Infant, Newborn,
pubmed-meshheading:16365259-Male,
pubmed-meshheading:16365259-Mutation, Missense,
pubmed-meshheading:16365259-Phenotype,
pubmed-meshheading:16365259-Phosphoproteins,
pubmed-meshheading:16365259-Proline,
pubmed-meshheading:16365259-Skin,
pubmed-meshheading:16365259-Syndrome,
pubmed-meshheading:16365259-Trans-Activators,
pubmed-meshheading:16365259-Transcription Factors,
pubmed-meshheading:16365259-Tumor Suppressor Proteins
|
|
pubmed:year |
2005
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|
pubmed:articleTitle |
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
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|
pubmed:affiliation |
Department of Dermatology, University of Pennsylvania, 220 Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA 19104, USA. aimee.payne@uphs.upenn.edu
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pubmed:publicationType |
Journal Article,
Case Reports
|
