about
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.[Mutations in gene PVRL4 encoding for cell adhesion molecule Nectin-4 in ectodermal dysplasia-syndactyly syndrome].A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
P921
description
human disease
@en
name
ectodermal dysplasia-syndactyly syndrome
@en
type
label
ectodermal dysplasia-syndactyly syndrome
@en
altLabel
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
@en
EDSS
@en
EDSS1
@en
Ectodermal Dysplasia-Syndactyly Syndrome type 1
@en
prefLabel
ectodermal dysplasia-syndactyly syndrome
@en
P1550
P2293
P2888
P4229
P492
P5270
MONDO:0013311