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
EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes.
Yao Y et al.
Cell & Bioscience, 2023
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
Yagi S et al.
The Journal of Dermatology, 2023
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
Bibi N et al.
The Australasian Journal of Dermatology, 2011
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C et al.
Human Mutation, 2011
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F et al.
Clinical Genetics, 2010
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
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