R. Martínez-Salazar

SHORT syndrome: A good case can break an old acronym.

F. Sánchez-Torralvo, J. M. Gómez-Zumaquero, M. Domínguez-López, 2022, Endocrinologia, diabetes y nutricion.

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

G. Ariceta, L. Castaño, A. Aguayo, 2018, Clinical kidney journal.

Variable phenotype in HNF 1 B mutations : extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

G. Ariceta, A. Aguayo, Leire Madariaga, 2019 .

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

F. Faucz, C. Stratakis, M. Lodish, 2020, Frontiers in Endocrinology.