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[Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].

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

Wang Jie, Wang Xiaohua, Zhang Lichun, Huang Yan, Sha Rina, An Jin, Wu Yanting, Guo Zhiyuan, Jia Yueqi

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a child with autosomal recessive primary microcephaly (MCPH). METHODS: A case study has been carried out on a boy who had presented at the Inner Mongolia Maternity and Child Health Care Hospital for microcephaly and mental deficiency in September 2022. Prenatal ultrasound images were retrospectively analyzed, and whole exome sequencing and Sanger...

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Identifiers

PMID: 39344621
DOI: 10.3760/cma.j.cn511374-20240123-00065

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