Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

doi:10.1186/s13023-026-04211-x

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Article

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Orphanet journal of rare diseases - 5 Feb 2026

Kovalskaia Valeriia A, Cherevatova Tatiana B, Zinina Elena V, Shagina Olga A, Vorontsova Ekaterina O, Matyushchenko Galina N, Demina Nina A, Petukhova Marina P, Markova Tatiana V, Guseva Daria M, Galkina Varvara A, Anisimova Inga V, Stepanova Anna A, Chuhrova Alena L, Sharova Margarita V, Bostanova Fatima M, Voskanyan Anahit E, Polyakov Aleksander V, Ryzhkova Oxana P

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) encompasses a group of rare genetic disorders affecting two or more ectodermal derivatives (hair, teeth, nails, certain glands). The condition can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner, with the majority of cases caused by mutations in the EDA, EDAR, EDARADD, and WNT10A genes. This study aimed to evaluate the distribution...

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Identifiers

PMID: 41645317
DOI: 10.1186/s13023-026-04211-x
PMCID: PMC12879417

Genes

EDA
EDAR
WNT10A
EDARADD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.PMID 41645317Read ↗

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