A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development
Abstract Background SALL4 is a transcription factor that plays a crucial role in early embryonic development and organogenesis, particularly in kidney development, although its specific regulatory mechanisms remain unclear. Methods We performed whole-exome sequencing (WES) to identify pathogenic var...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03833-x |
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