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Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.

Oral diseases - 1 Nov 2023

Zhou Yuan, Yin Bin, Shi Bing, Zheng Li-Wei, Jia Zhong-Lin

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PMID: 36029158
DOI: 10.1111/odi.14362

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Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.PMID 36029158Read ↗

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

A novel splicing mutation of ectodysplasin A gene responsible for 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 ↗

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

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 ↗

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

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

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

Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.Semantic proximity Read ↗

A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic 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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