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

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

Abstract 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 n...

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Bibliographic Details
Main Authors: Nguyen Thuy Duong, Nguyen Phuong Anh, Nguyen Duy Bac, Le Bach Quang, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Format: Article
Language:English
Published: Nature Publishing Group 2022-06-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00200-1

Internet

https://doi.org/10.1038/s41439-022-00200-1

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