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

A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.

Archives of oral biology - 1 Jun 2023

Agiannitopoulos Konstantinos, Potska Kevisa, Douka Anna, Gintoni Iphigenia, Tsaousis Georgios N, Papadopoulou Eirini, Nasioulas George, Yapijakis Christos

Abstract excerpt

OBJECTIVE: Identify the disease-causing mutation in a patient with features of X-linked hypohidrotic ectodermal dysplasia, which is a genetic disorder characterized by hypodontia, hypohidrosis and hypotrichosis. It is caused by mutations in Ectodysplasin A gene, which encodes ectodysplasin A, a member of the tumor necrosis factor superfamily. DESIGN: Genetic analysis, was performed using chromosomal microarray...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Ectodermal Dysplasia 1, Anhidrotic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodysplasins

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 37001412
DOI: 10.1016/j.archoralbio.2023.105689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.PMID 37001412Read ↗

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.Semantic proximity Read ↗

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.Semantic proximity Read ↗

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.Semantic proximity Read ↗

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

A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal DysplasiaSemantic proximity Read ↗

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

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.Semantic proximity Read ↗

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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