Associated Papers
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Ali G et al.
Genetics Research, 2023
Mutation profiles of diffuse large B-cell lymphoma transformation of splenic B-cell lymphoma/leukemia, unclassifiable on whole-exome sequencing.
Kurosawa S et al.
Ejhaem, 2021
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
A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
Raza SI et al.
Annals of Human Genetics, 2015
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P et al.
The Journal of Investigative Dermatology, 2014
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Hajra B et al.
Anais Brasileiros De Dermatologia, 0
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