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Article

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Clinical genetics - 1 Jan 2026

Esener Zeynep, Yücesoy Mehmet Akif, Gezdirici Alper, Dogan Mustafa, Turkyilmaz Ayberk, Tekedereli Ibrahim, Bas Hasan, Tekmenuray-Unal Aysel, Kocagil Sinem, Citli Senol, Ozturk Murat, Ceylan Emine Ipek, Karaman Volkan, Aslanger Ayca Dilruba

Abstract excerpt

Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the EDA, EDAR, EDARADD, and WNT10A genes. This study examined 32 cases from 25 unrelated families from Türkiye, identifying seven novel variants in the EDA, EDAR, and WNT10A genes. The distribution of genetic alterations across the cohort...

Topics

Humans
Male
Female
Ectodysplasins
Edar Receptor
Child, Preschool
Phenotype
Child
Ectodermal Dysplasia
Wnt Proteins
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Edar-Associated Death Domain Protein

Genetic Association Studies

Adolescent

Mutation

Ectodermal Dysplasia 1, Anhidrotic

Infant

Hypotrichosis

Source

Identifiers

PMID: 40701644
DOI: 10.1111/cge.70030

Genes

EDA
EDAR
WNT10A
EDARADD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.PMID 40701644Read ↗

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