Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

Background: Ectodysplasin A (EDA) variations are major pathogenic factors for hypohidrotic ectodermal dysplasia (HED), the most common form of ectodermal dysplasia (ED), characterized by hypotrichosis, hypohidrosis, hypodontia, and other oral features. Methods: Molecular genetic defects in three HED...

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Detalles Bibliográficos
Autores principales: Wang, Yupei, Zhang, Chuan, Zhou, Bingbo, Hui, Ling, Zheng, Lei, Chen, Xue, Wang, Shifan, Yang, Lan, Hao, Shengju, Zhang, Qinghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298733/
https://www.ncbi.nlm.nih.gov/pubmed/35873474
http://dx.doi.org/10.3389/fgene.2022.916340

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298733/
https://www.ncbi.nlm.nih.gov/pubmed/35873474
http://dx.doi.org/10.3389/fgene.2022.916340

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