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[Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].

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

Wu Jingwen, Lyu Yuan, Xyu Shu, Wang Xianzhen

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a fetus with short limbs identified by prenatal ultrasonography. METHODS: A fetus detected with short limb malformations at Shengjing Hospital Affiliated to China Medical University on October 25, 2021 was selected as the study subject. Prenatal ultrasound and post-abortion imaging were carried out to determine the phenotypic characteristics of the fetus. Amniotic...

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PMID: 38684309
DOI: 10.3760/cma.j.cn511374-20231219-00341

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