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Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report
Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos-Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, JuliánJournal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.568
Date:
February, 2019
File:
PDF, 743 KB
2019