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Article

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Nephrology (Carlton, Vic.) - 1 Aug 2024

Liu Xuyan, Wang Hong, Zhang Yiyin, Zhang Ran, Zhang Ruixiao, Shi Xiaomeng, Pan Fengjiao, Qiao Dan, Xin Qing, Liu Zhiying, Zhang Yan, Li Changying, Lang Yanhua, Shao Leping

Abstract excerpt

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of...

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PMID: 38584358
DOI: 10.1111/nep.14300

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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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