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

Two heterozygous mutations in the 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 sequencing....

Full description

Bibliographic Details
Main Authors: Qin Zhang, Minjuan Liu, Yinghua Liu, Hui Tang, Ting Wang, Hong Li, Jingjing Xiang
Format: Article
Language:English
Published: SAGE Publishing 2020-10-01
Series:Journal of International Medical Research
Online Access:https://doi.org/10.1177/0300060519877997

Internet

https://doi.org/10.1177/0300060519877997

Similar Items