Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
Abstract Background Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation, liver fibrosis, and retinopathy. Affe...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2024-03-01
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| Col·lecció: | Molecular Genetics & Genomic Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/mgg3.2399 |
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