Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q2...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Brancati, Francesco, Fortugno, Paola, Bottillo, Irene, Lopez, Marc, Josselin, Emmanuelle, Boudghene-Stambouli, Omar, Agolini, Emanuele, Bernardini, Laura, Bellacchio, Emanuele, Iannicelli, Miriam, Rossi, Alfredo, Dib-Lachachi, Amina, Stuppia, Liborio, Palka, Giandomenico, Mundlos, Stefan, Stricker, Sigmar, Kornak, Uwe, Zambruno, Giovanna, Dallapiccola, Bruno
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2010
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2917716/
https://ncbi.nlm.nih.gov/pubmed/20691405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.003
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