TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel

Gitelman syndrome – A new mutation in the SLC12A3 gene Ana Luísa Correia, Maria Guedes Marques, Rui Alves

Novel nonsense mutation in the SLC12A3 gene in a Spanish case of Gitelman syndrome Lourdes Roca-Argente, Angel Zúñiga, Jose Luis Moll-Guillem, Julio Hernández-Jaras