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[Analysis of genetic variant in a child with Pitt-Hopkins syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2023

Zhu Shuxia, Zhang Yuanyuan, Zhang Yuehua

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum. METHODS: A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole...

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PMID: 37994142
DOI: 10.3760/cma.j.cn511374-20220425-00278

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