Antenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene
Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and h...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Indian Journal of Nephrology |
| Subjects: | |
| Online Access: | http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2019;volume=29;issue=5;spage=360;epage=363;aulast=Acar |