Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

doi:10.1016/j.ajhg.2010.07.003

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Article

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

American journal of human genetics - 13 Aug 2010

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

Abstract excerpt

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 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mutation in the PVRL4...

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PMID: 20691405
DOI: 10.1016/j.ajhg.2010.07.003
PMCID: PMC2917716

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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