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

Clinical and experimental dermatology - 16 Nov 2023

Cammarata-Scalisi Francisco, Callea Michele, Chaudhary Ajay Kumar, Tadich Antonio Cárdenas, Castillo Maykol Araya, Morabito Antonino, Bellacchio Emanuele, Pisaneschi Elisa, Novelli Antonio, Willoughby Colin E, Bashyam Murali Dharan

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PMID: 37379583
DOI: 10.1093/ced/llad218

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Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.PMID 37379583Read ↗

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 ↗

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

Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic 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 ↗

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with 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 ↗

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.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 ↗

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 ↗

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.Semantic proximity Read ↗

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

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.Semantic proximity Read ↗

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