Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome

BACKGROUND: Cockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. The age of onset is related to the severity of t...

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Detalles Bibliográficos
Autores principales: Wang, Xinyi, Li, Yue, Zhao, Anqi, Wang, Yumeng, Cao, Qiaoyu, Pan, Chaolan, Li, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655510/
https://www.ncbi.nlm.nih.gov/pubmed/37592445
http://dx.doi.org/10.1002/mgg3.2254

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655510/
https://www.ncbi.nlm.nih.gov/pubmed/37592445
http://dx.doi.org/10.1002/mgg3.2254

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