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Article

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Feb 2016

Callea M, Nieminen P, Willoughby C E, Clarich G, Yavuz I, Vinciguerra A, Di Stazio M, Giglio S, Sani I, Maglione M, Pensiero S, Tadini G, Bellacchio E

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Identifiers

PMID: 25266272
DOI: 10.1111/jdv.12747

Genes

EDA

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A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.PMID 25266272Read ↗

Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

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

A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.Semantic proximity Read ↗

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

Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.Semantic proximity Read ↗

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.Semantic proximity Read ↗

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

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