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Article

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.

Journal of Zhejiang University. Science. B - 2 Oct 2024

Wang Xintai, Zheng Rui, Dukhinova Marina, Wang Luxi, Shen Ying, Lin Zhijie

Abstract excerpt

Cockayne syndrome (CS) group B (CSB), which results from mutations in the excision repair cross-complementation group 6 (ERCC6) genes, which produce CSB protein, is an autosomal recessive disease characterized by multiple progressive disorders including growth failure, microcephaly, skin photosensitivity, and premature aging. Clinical data show that brain atrophy, demyelination, and calcification are the main...

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Identifiers

PMID: 39420523
DOI: 10.1631/jzus.B2300712
PMCID: PMC11494160

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