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[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene].

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

Wang Xi, Zhang Yaodong, Du Mengmeng, Yang Haihua, Liu Xiaojing, Wang Mengqin, Chen Jiajia, Chen Yongxing, Wei Haiyan

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of three children with Leguis syndrome. METHODS: Three children suspected as Legius syndrome at the Henan Children's Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected. All children were subjected to whole exome sequencing, and...

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Identifiers

PMID: 39097276
DOI: 10.3760/cma.j.cn511374-20230620-00377

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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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