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Article

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.

Congenital anomalies - 1 Jul 2019

Ahmad Farooq, Ahmad Tanveer, Umair Muhammad, Abdullah, Ahmad Wasim

Abstract excerpt

No abstract is available from the source.

Topics

Consanguinity
DNA Mutational Analysis
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Edar Receptor
Facies
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Humans
Male
Pakistan
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30079503
DOI: 10.1111/cga.12307

Genes

EDAR

Provenance

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

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Click a neighbor to travelStep 1 · 12 closest

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.PMID 30079503Read ↗

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

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Two novel mutations in the gene EDAR causing 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 INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.Semantic proximity Read ↗

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

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

A compound heterozygous mutation in the EDAR gene in a Spanish family with 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 ↗

Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands.Semantic proximity Read ↗

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

First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?Semantic proximity Read ↗

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