Cargando…
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...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
|
Materias: | |
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 |