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TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant
About 80% of patients with tuberous sclerosis complex (TSC) present renal involvement, usually as angiomyolipomas followed by cystic disease. An early diagnosis of polycystic kidney disease (PKD) in such patients is frequently related to the TSC2/PKD1 contiguous gene syndrome (PKDTS). Molecular conf...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Espanhol |
| Publicado em: |
Elsevier
2020-01-01
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| Colecção: | Nefrología |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S0211699519300773 |
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