Associated Papers
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
Doğan Arı AB et al.
European Journal of Pediatrics, 2025
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Kim MJ et al.
Orphanet Journal of Rare Diseases, 2024
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
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.
Wohlfart S et al.
Clinical Genetics, 2019
Rare and Common Variants Conferring Risk of Tooth Agenesis.
Jonsson L et al.
Journal of Dental Research, 2018
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
Zeng B et al.
Genes, 2016
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
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
The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
Kumar A et al.
The Journal of Biological Chemistry, 2001
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