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Article

[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Fang Xiaohua, Zhu Chaofeng, Kong Xiangdong, Liu Ning

Abstract excerpt

OBJECTIVE: To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity. METHODS: Systematic ultrasound examination was carried out for the fetus, and the prenatal and postnatal phenotype of the first fetus were retrospectively analyzed. The fetus and his parents were subjected to whole exome sequencing (WES) to identify potential...

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Source

Identifiers

PMID: 35810432
DOI: 10.3760/cma.j.cn511374-20210306-00192

Genes

COL2A1

Variants

Provenance

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