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

by Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel
Published 2020-01-01

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

by Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel
Published 2020-01-01