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[Prenatal diagnosis and phenotypic analysis of two fetuses harboring heterozygous deletions of SHOX gene].

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

Gu Leilei, Liu Wei, Zhu Xiangyu, Li Jie

Abstract excerpt

OBJECTIVE: To explore the clinical manifestations of two fetuses harboring heterozygous deletions of the SHOX gene. METHODS: Two pregnant women who had presented at the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital respectively on June 24, 2022 and July 27, 2022 were selected as the study subjects. In case 1, prenatal ultrasonography had shown short femur and intrauterine growth retardation of the...

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PMID: 38311560
DOI: 10.3760/cma.j.cn511374-20221102-00753

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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