Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures

ObjectivesCockayne syndrome (CS), a rare hereditary neurodegenerative disorder caused by pathogenic variants in ERCC6 (CSB) and ERCC8 (CSA), often clinically overlaps with cerebral palsy (CP), leading to misdiagnosis. This study evaluates the role of genetic testing in differential diagnosis, examin...

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Bibliographic Details
Main Authors: Jing Chen, Wei Su, Dan Gao, Fangfang Liu, Shuang Chen, Wenhan Zhang, Min Peng, Tao Lei, Hongmin Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
Subjects:
cockayne syndrome
ERCC8 gene
hepatic dysfunction
ankle contracture
cerebral palsy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1591551/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1591551/full

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