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
41645317 (PubMed )
Supplement: 13023_2026_4211_MOESM1_ESM.xlsx › ____1
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G et al.
Jama Network Open, 2020
32960281 (PubMed )
Supplement: jamanetwopen-e2018109-s001.pdf
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.
Guazzarotti L et al.
Clinical Genetics, 2015
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
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
Keller MD et al.
Frontiers in Immunology, 2011
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
Elomaa O et al.
Human Molecular Genetics, 2001
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