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X-linked Transient Antenatal Bartter Syndrome Related to MAGED2 Gene: Enriching the Phenotypic Description and Pathophysiologic Investigation

Alexandre Buffet,Mathilde Filser,Alexandra Bruel,Rodolphe Dard,Thibaud Quibel,Charlotte Dubucs,Theresa Kwon,Pauline Le Tanno,Julien Thevenon,Alban Ziegler,Lise Allard, Vincent Guigonis, Jean-Jacques Roux,Laurence Heidet,Claire Rougeulle,Olivia Boyer,Rosa Vargas-Poussou,Marguerite Hureaux

GENETICS IN MEDICINE（2024）

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Key words
Methylation,Phenotypic variability,Transient Antenatal Bartter,syndrome
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