X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference27 articles.
1. A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia
2. The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
3. Further evidence against linkage between christ-siemens-touraine (CST) and XG loci
4. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
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1. A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle;Genes;2023-12-20
2. 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?;Italian Journal of Pediatrics;2021-06-02
3. Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts;Proceedings of the National Academy of Sciences;2018-12-03
4. Prevalence of WNT10A gene mutations in non-syndromic oligodontia;Clinical Oral Investigations;2018-11-14
5. Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts;2018-04-10
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