Associated Papers
A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
Yao L et al.
Bmc Pregnancy and Childbirth, 2025
EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Rietmann SJ et al.
Genes, 2024
39062633 (PubMed )
Supplement: genes-15-00854-s001.zip › Table_S5_Private_Variants.xlsx › private_het.prot.chang.variants
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK et al.
American Journal of Medical Genetics. Part A, 2022
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
Bashyam MD et al.
The British Journal of Dermatology, 2012
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
RamaDevi AR et al.
The British Journal of Dermatology, 2008
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