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Article

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

European journal of medical genetics - 1 Jan 2000

Zhang Huiwen, Gao Jialin, Ye Jun, Gong Zhuwen, Gu Xuefan

Abstract excerpt

The Cockayne syndrome is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin sensitivity to sunlight. It belongs to the family of disorders of the nucleotide excision repair system. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of the Cockayne syndrome, whereby the ERCC6 gene mutation makes up approximately 70% of the cases. We...

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Source

Identifiers

PMID: 21477668
DOI: 10.1016/j.ejmg.2011.03.012

Genes

ERCC6
ERCC8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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