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[Clinical phenotypes and genetic analysis of five children with Lamb-Shaffer syndrome due to novel variants of SOX5 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2026

Zhang Ziyan, Xie Yaxue, Pang Ping, Liu Qiyan, Li Zhichao, Yang Guang

Abstract excerpt

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of five children with Lamb-Shaffer syndrome (LAMSHF). METHODS: Five children with LAMSHF diagnosed at the Department of Pediatrics, the First Medical Center of Chinese PLA General Hospital from April 2021 to December 2024 were selected as study subjects. Clinical data of the children was collected. Genomic DNA was extracted from peripheral...

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Identifiers

PMID: 41621840
DOI: 10.3760/cma.j.cn511374-20251011-00593

Genes

SOX5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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