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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Int Med Res
Hlavní autoři: Zhang, Qin, Liu, Minjuan, Liu, Yinghua, Tang, Hui, Wang, Ting, Li, Hong, Xiang, Jingjing
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2019
Témata:
Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7607196/
https://ncbi.nlm.nih.gov/pubmed/31558084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519877997
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky