Open AccessClinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis
Author(s) -
Anshuman Saha,
Priyadarshini Pande,
Kinnari Vala,
Shahenaz Kapadia,
Himanshu V. Patel
Publication year - 2022
Publication title -
cen case reports
Language(s) - English
Resource type - Journals
ISSN - 2192-4449
DOI - 10.1007/s13730-022-00694-2
Subject(s) - nephrocalcinosis , bartter syndrome , medicine , primary hyperoxaluria , hypercalciuria , hyperaldosteronism , metabolic alkalosis , pseudohypoaldosteronism , missense mutation , bartter's syndrome , exome sequencing , endocrinology , pediatrics , pathology , hypokalemia , aldosterone , urinary system , phenotype , kidney , genetics , gene , biology
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