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Article

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

Archivos argentinos de pediatria - 1 Feb 2017

Callea Michele, Cammarata-Scalisi Francisco, Willoughby Colin E, Giglio Sabrina R, Sani Ilaria, Bargiacchi Sara, Traficante Giovanna, Bellacchio Emanuele, Tadini Gianluca, Yavuz Izzet, Galeotti Angela, Clarich Gabriella

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in...

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Source

Identifiers

PMID: 28097853
DOI: 10.5546/aap.2017.e34

Genes

EDAR
EDA
EDARADD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].PMID 28097853Read ↗

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?Semantic proximity Read ↗

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.Semantic proximity Read ↗

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].Semantic proximity Read ↗

[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].Semantic proximity Read ↗

Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report.Semantic proximity Read ↗

Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.Semantic proximity Read ↗

Hypohidrotic ectodermal dysplasia: clinical and molecular review.Semantic proximity Read ↗

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