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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

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Identifiers

PMID: 30079503
DOI: 10.1111/cga.12307

Genes

EDAR

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Related research

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Research trail→

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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