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
β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.
Bourmoum M et al.
Plos One, 2024
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
Andreoni F et al.
Molecular Genetics & Genomic Medicine, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
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
A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.
Moya-Quiles MR et al.
Archives of Dermatological Research, 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
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
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P et al.
The Journal of Biological Chemistry, 2001
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
Monreal AW et al.
Nature Genetics, 1999