Associated Papers
Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
Rotunno R et al.
Genes, 2021
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
Ahmad F et al.
Annals of Human Genetics, 2018
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R et al.
International Journal of Dermatology, 2018
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
Dardour L et al.
Molecular Syndromology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Brancati F et al.
American Journal of Human Genetics, 2010
Select a paper to view details