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 splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.

Oral diseases - 1 Sept 2018

Liu G, Wang X, Qin M, Sun L, Zhu J

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair, and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Direct sequencing analysis revealed a previously unidentified mutation in the EDA splice donor site...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
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 EDA gene

Share to Mutation

Share to Pedigree

Share to RNA Splice Sites

Source

Identifiers

PMID: 29676859
DOI: 10.1111/odi.12874

Genes

EDA

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 splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.PMID 29676859Read ↗

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

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

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

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

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

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic 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 ↗

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

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

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

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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