Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome

We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identified a novel missense variant combined with a known nonsense v...

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Detalles Bibliográficos
Autores principales: Duong, Nguyen Thuy, Anh, Nguyen Phuong, Bac, Nguyen Duy, Quang, Le Bach, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170721/
https://www.ncbi.nlm.nih.gov/pubmed/35668072
http://dx.doi.org/10.1038/s41439-022-00200-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170721/
https://www.ncbi.nlm.nih.gov/pubmed/35668072
http://dx.doi.org/10.1038/s41439-022-00200-1

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