Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

doi:10.1111/j.1365-2133.2005.06642.x

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

Back to search

Article

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

The British journal of dermatology - 1 Jul 2005

Naeem M, Muhammad D, Ahmad W

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, a lack of sweat glands and malformation of teeth. There are X-linked, autosomal recessive and autosomal dominant forms of this disorder. Mutations in the EDA gene cause X-linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED. OBJECTIVES: To identify pathogenic...

Topics

Adolescent
Base Sequence
DNA Mutational Analysis
Ectodermal Dysplasia
Edar Receptor
Facies
Female
Genes, Recessive
Genotype
Humans
Hypohidrosis
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Mutation

Pakistan

Pedigree

Phenotype

Receptors, Ectodysplasin

Source

Open in PubMed

Identifiers

PMID: 16029325
DOI: 10.1111/j.1365-2133.2005.06642.x

Genes

EDAR
EDA
EDARADD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.PMID 16029325Read ↗

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

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.Semantic proximity Read ↗

A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.Semantic proximity Read ↗

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

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

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

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

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