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[Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2024

Peng Jia, Yang Bo, Wang Handuo, Zhang Zhiying, Cui Fangying, Li Haiyu, Zhao Yueshu, Liu Ling

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and variant of CREBBP gene in a fetus with Rubinstein-Taybi syndrome (RSTS). METHODS: A fetus with RSTS diagnosed at the Third Affiliated Hospital of Zhengzhou University in August 2022 was selected as the study subject. Clinical data, amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected for whole exome sequencing (WES)....

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Identifiers

PMID: 39097282
DOI: 10.3760/cma.j.cn511374-20231016-00195

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