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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-024-05326-5 |
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