TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant

TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant

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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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Bibliographic Details
Main Authors: Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel
Format: Article
Language:Spanish
Published: Elsevier 2020-01-01
Series:Nefrología
Online Access:http://www.sciencedirect.com/science/article/pii/S0211699519300773

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http://www.sciencedirect.com/science/article/pii/S0211699519300773

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