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[Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2023

Zou Jinghui, Zhang Yisheng, Liu Yan, Xue Aijiao, Yan Lulu, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS). METHODS: A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. RESULTS:...

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Identifiers

PMID: 37102294
DOI: 10.3760/cma.j.cn511374-20221013-00684

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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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