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Article

[Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2016

Zhou Zhizi, Liu Li, Wu Moling, Liu Hongsheng, Cai Yanna, Sheng Huiying, Li Xiuzhen, Cheng Jing, Li Duan, Huang Yonglan

Abstract excerpt

OBJECTIVE: Cockayne syndrome is a rare disease and difficult to be recognized. This study aimed to expand the knowledge of the clinical and molecular characteristics of the children with Cockayne syndrome (CS). METHOD: Clinical data of two siblings with classic CS of Guangzhou Women and Children's Medical Center from July 2013 to November 2014 were obtained and analyzed. The whole DNA of peripheral blood was...

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Identifiers

PMID: 26791926
DOI: 10.3760/cma.j.issn.0578-1310.2016.01.013

Genes

ERCC6

Variants

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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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