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

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

The British journal of dermatology - 1 May 2010

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent M-C, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Ectodermal Dysplasia

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

Share to MAP Kinase Kinase Kinases

Share to NF-kappa B

Share to Sequence Alignment

Share to Species Specificity

Share to TNF Receptor-Associated Factor 6

Share to Zebrafish

Source

Identifiers

PMID: 20222921
DOI: 10.1111/j.1365-2133.2010.09670.x

Genes

EDARADD
TAB2
TRAF6
EDAR
EDA

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.PMID 20222921Read ↗

Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.Semantic proximity Read ↗

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.Semantic proximity Read ↗

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.Semantic proximity Read ↗

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

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

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.Semantic proximity Read ↗

A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.Semantic 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 mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.Semantic proximity Read ↗

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