Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.

BMC medical genetics - 16 May 2014

Kieri Catarina Falk, Bergendal Birgitta, Lind Lisbet K, Schmitt-Egenolf Marcus, Stecksén-Blicks Christina

Abstract excerpt

BACKGROUND: Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ectodermal Dysplasia 1, Anhidrotic
Share to Edar Receptor

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant

Share to Infant, Newborn

Share to Pedigree

Share to Salivary Glands

Share to Tooth Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 24884697
DOI: 10.1186/1471-2350-15-57
PMCID: PMC4036832

Genes

EDAR

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.PMID 24884697Read ↗

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

Oligodontia ectodermal dysplasia--on signs, symptoms, genetics, and outcomes of dental treatment.Semantic proximity Read ↗

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

[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 ↗

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.Semantic proximity Read ↗

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesisSemantic proximity Read ↗

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

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.Semantic proximity Read ↗

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

Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.Semantic proximity Read ↗

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.