SAT-093 Two Cases of Autosomal Dominant Familial Central Diabetes Insipidus: A Novel Variant in Neurophysin II Region of AVP Gene

por Ramirez, Biochemist, Pablo, Vaiani, Elisa, Marino, Biochemist, Roxana Marcela, Perez-Garrido, Biochemist, Natalia Isabel, Morales, Cintia, Rubio, Betty, Rivarola, Marco A, Belgorosky, Alicia
Publicado 2020

SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient

por Ramirez, Biochemist, Pablo, Palma, Isabel Di, Viterbo, Gisela, Perez-Garrido, Biochemist, Natalia Isabel, Pujana, Biochemist, Matias, Juanes, Matias, Belgorosky, Alicia, Marino, Roxana Marcela
Publicado 2020