Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern

The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic gene variants. The harmfulness of these variations was pred...

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Detalles Bibliográficos
Autores principales: Liu, Haochen, Su, Lanxin, Liu, Hangbo, Zheng, Jinglei, Feng, Hailan, Liu, Yang, Yu, Miao, Han, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600026/
https://www.ncbi.nlm.nih.gov/pubmed/36291989
http://dx.doi.org/10.3390/diagnostics12102300

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