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[Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1].

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

Yan Lulu, Cao Juan, Zhang Yuxin, Li Dongmei, Liu Yingwen, Yang Xiangchun, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a fetus with Cardiac valvular dysplasia type 1 (CVDP1). METHODS: A CVDP1 fetus identified at the Ningbo Women and Children's Hospital on July 7, 2022 was selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were subjected to trio-whole exome sequencing (trio-WES), and candidate variants were verified by Sanger sequencing....

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Source

Identifiers

PMID: 38171566
DOI: 10.3760/cma.j.cn511374-20220909-00616

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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