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Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus
Joshi, Shivani, Kvistgaard, Helene, Kamperis, Konstantinos, Færch, Mia, Hagstrøm, Søren, Gregersen, Niels, Rittig, Søren, Christensen, Jane HvarregaardLanguage:
english
Journal:
European Journal of Pediatrics
DOI:
10.1007/s00431-018-3132-z
Date:
March, 2018
File:
PDF, 952 KB
english, 2018