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Article

[Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].

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

Ding Yang, Wang Ting, Xiang Jingjing

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis for a fetus featuring Rhizomelic skeletal dysplasia. METHODS: A fetus diagnosed at the Reproductive and Genetic Center of Suzhou Municipal Hospital in November 2020 was selected as the study subject. Whole exome sequencing (WES) was carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing. Peripheral blood smears...

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Source

Identifiers

PMID: 38946370
DOI: 10.3760/cma.j.cn511374-20230523-00309

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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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