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Article

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.

Scientific reports - 23 Mar 2017

Xie Hua, Li Xiaoyan, Peng Jiping, Chen Qian, Gao ZhiJie, Song Xiaozhen, Li WeiYu, Xiao Jianqiu, Li Caihua, Zhang Ting, Gusella James F, Zhong Jianmin, Chen Xiaoli

Abstract excerpt

Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical grounds to have Cockayne syndrome. Using multiple molecular techniques, including whole exome sequencing, array...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28333167
DOI: 10.1038/srep44271
PMCID: PMC5363064

Genes

ERCC8
ERCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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