X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation

Autor: Buffet, Alexandre, Filser, Mathilde, Bruel, Alexandra, Dard, Rodolphe, Quibel, Thibaud, Dubucs, Charlotte, Kwon, Theresa, Le Tanno, Pauline, Thevenon, Julien, Ziegler, Alban, Allard, Lise, Guigonis, Vincent, Roux, Jean-Jacques, Heidet, Laurence, Rougeulle, Claire, Boyer, Olivia, Vargas-Poussou, Rosa, Hureaux, Marguerite
Zdroj: In Genetics in Medicine July 2024
Databáze: ScienceDirect