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Article

[CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2014

Zhang Jiangwei, Wang Changyan, Li Ming, Qiu Zhengqing

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic features of 2 patients with Rubinstein-Taybi syndrome. METHOD: Using next generation sequencing (NGS) the CREBBP and EP300 genes of 2 children who were diagnosed as Rubinstein-Taybi syndrome at Peking Union Medical College Hospital. The mutations identified by NGS were verified by PCR were analyzed. RESULT: The 2 patients at the age of 5 months and 4.5 years...

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Source

Identifiers

PMID: 25476429

Genes

CREBBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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