Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.
Thaweesapphithak S et al.
Bmc Oral Health, 2025
The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.
Gao Y et al.
Frontiers in Genetics, 2023
An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases.
Inazawa-Terada M et al.
The Journal of Dermatology, 2022
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2021
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Zhang L et al.
Human Mutation, 2020
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC et al.
Orphanet Journal of Rare Diseases, 2019
Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
Fournier BP et al.
Journal of Dental Research, 2018
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
Callea M et al.
Archivos Argentinos De Pediatria, 2017
Hair shaft structures in EDAR induced ectodermal dysplasia.
Stecksén-Blicks C et al.
Bmc Medical Genetics, 2015
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
Callea M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
Kieri CF et al.
Bmc Medical Genetics, 2014
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Plaisancié J et al.
American Journal of Medical Genetics. Part A, 2013
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
Bibi N et al.
The Australasian Journal of Dermatology, 2011
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
van der Hout AH et al.
European Journal of Human Genetics : Ejhg, 2008
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
Lind LK et al.
Bmc Medical Genetics, 2006
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
Chassaing N et al.
Human Mutation, 2006
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
Naeem M et al.
The British Journal of Dermatology, 2005