A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8

Abstract Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-l...

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Bibliographic Details
Main Authors: Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu
Format: Article
Language:English
Published: Nature Publishing Group 2024-11-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00297-6
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