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

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

Abstract 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, lab...

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Bibliographic Details
Main Authors: Rong Liang, Bixia Zheng, Chunli Wang, Sanlong Zhao, Wei Zhou, Ying Chen, Ruochen Che
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Pediatrics
Subjects:
Townes-Brocks syndrome
SALL1 gene
FSGS
Podocyte
Online Access:https://doi.org/10.1186/s12887-024-05326-5
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