PhenomeGene — Human Disease Gene Website SeriesPVRL4

Publications

Boudghene-Stambouli O, Merad-Boudia A. Association of ectodermal dysplasia and syndactylia. Ann Dermatol Venereol. 1991;118:107-110. PMID: 1646587.

Brancati F et al. Mutations in PVRL4, Encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.Am J Hum Genet. 2010;87:265–273. PMID: 20691405.

Brancati F et al. Nectinopathies: an emerging group of ectodermal dysplasia syndromes. G Ital Dermatol Venereol. 2013;148:59-64. PMID: 23407077.

Fortugno P et al. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the Rac1 pathway and the kinetics of adherens junction formation.J Invest Derm. 2014;134: 2146-2153. PMID: 24577405.

Mollo MR et al. p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.Exp Dermatol. 2015;24: 114-119. PMID: 25387952