[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].

doi:10.3760/cma.j.cn511374-20251219-00733

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[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].

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

Chi Yunqian, Sun Futao, Zhang Zihan, Wang Yunhe, Hao Wei

Abstract excerpt

OBJECTIVE: To analyze a novel exonic variant of the SALL1 gene and its impact on the binding site of SALL protein. METHODS: Clinical data of three children diagnosed with Townes-Brocks syndrome and their family members who had presented at the First Affiliated Hospital of Shandong First Medical University in April 2022 were retrospectively collected. The pathogenic variant was identified through whole-genome...

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PMID: 42663025
DOI: 10.3760/cma.j.cn511374-20251219-00733

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SALL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.