Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review
Abstract Background Variants in the LAGE3 gene can lead to Galloway-Mowat syndrome (GAMOS), a rare genetic disease. Currently, there have been a total of 6 reported cases worldwide, all occurring in children under the age of 3 years old. The main features of LAGE3 variants include early-onset nephro...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2025-06-01
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| Colecção: | BMC Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12887-025-05810-6 |
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