Open AccessLate-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review
Author(s) -
Khaled Elfert,
David S. Geller,
Carol NelsonWilliams,
Richard P. Lifton,
Hassan A. AlMalki,
Awais Nauman
Publication year - 2020
Publication title -
american journal of case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
ISSN - 1941-5923
DOI - 10.12659/ajcr.924527
Subject(s) - bartter syndrome , medicine , hypokalemia , missense mutation , hyperaldosteronism , compound heterozygosity , bartter's syndrome , metabolic alkalosis , rare disease , mutation , pediatrics , gene mutation , endocrinology , disease , genetics , gene , aldosterone , biology
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