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Article

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.

Italian journal of pediatrics - 24 Jun 2024

Chi Yunqian, Yao Yi, Sun Futao, Zhang Wenhong, Zhang Zihan, Wang Yunhe, Hao Wei

Abstract excerpt

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play...

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Identifiers

PMID: 38915054
DOI: 10.1186/s13052-024-01691-0
PMCID: PMC11197267

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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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