Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis.

Autor: Saha, Anshuman, Pande, Priyadarshini, Vala, Kinnari, Kapadia, Shahenaz, Patel, Himanshu
Zdroj: CEN Case Reports; Nov2022, Vol. 11 Issue 4, p417-421, 5p
Databáze: Supplemental Index