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[Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2021

Zhao Yan, Zhao Yanhui, Lyu Yuan, Pang Hong

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis. METHODS: Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen...

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PMID: 34487526
DOI: 10.3760/cma.j.cn511374-20200716-00520

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