Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

BACKGROUND: This study aimed to investigate the genetic causes of hypohidrotic ectodermal dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in Chinese Han patients. METHODS: Whole-exome sequencing (WES) was used to screen HED-related genes in two family members, followe...

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Detalles Bibliográficos
Autores principales: Han, Yang, Wang, Xiuli, Zheng, Liyun, Zhu, Tingting, Li, Yuwei, Hong, Jiaqi, Xu, Congcong, Wang, Peiguang, Gao, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010634/
https://www.ncbi.nlm.nih.gov/pubmed/32117440
http://dx.doi.org/10.3389/fgene.2020.00021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010634/
https://www.ncbi.nlm.nih.gov/pubmed/32117440
http://dx.doi.org/10.3389/fgene.2020.00021

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