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Article

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

BMC pediatrics - 5 Feb 2025

Liang Rong, Zheng Bixia, Wang Chunli, Zhao Sanlong, Zhou Wei, Chen Ying, Che Ruochen

Abstract excerpt

BACKGROUND: To investigate the functional characteristics of heterozygous variants in the SALL1 gene in two children with Townes-Brocks syndrome (TBS), as well as the underlying mechanisms leading to chronic kidney disease. METHODS: We retrospectively analyzed the clinical manifestations, laboratory findings, and genetic backgrounds of two TBS patients admitted to our hospital presenting with chronic kidney...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39910415
DOI: 10.1186/s12887-024-05326-5
PMCID: PMC11796162

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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