A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis
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DOI: 10.1002/mgg3.2027
Abstract: Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC‐Kb, and is characterized by renal salt wasting, hypokalemia, metabolic… read more here.
Keywords: novel clcnkb; clcnkb variant; bartter syndrome; bartter ... See more keywords