Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient

OBJECTIVE: To confirm diagnosis and explore the genetic aetiology in a Chinese patient suspected to have Cockayne syndrome (CS). METHODS: The patient was clinically examined, and the patient and her biological parents underwent genetic analysis using whole exome sequencing (WES) and Sanger sequencin...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Qin, Liu, Minjuan, Liu, Yinghua, Tang, Hui, Wang, Ting, Li, Hong, Xiang, Jingjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7607196/
https://www.ncbi.nlm.nih.gov/pubmed/31558084
http://dx.doi.org/10.1177/0300060519877997

Ejemplares similares

Ejemplares similares