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[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].

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

Yan Lulu, Tian Liyun, Cao Juan, Zhou Bihua, Zhang Yuxin, Liu Yingwen, Han Chunxiao, Li Haibo

Abstract excerpt

OBJECTIVE: To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography. METHODS: Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by...

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Identifiers

PMID: 34365627
DOI: 10.3760/cma.j.cn511374-20200824-00621

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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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