Condition: Bartter syndrome, antenatal type 1


rs137853158 in LOC112267905;SLC12A1 gene and Bartter syndrome, antenatal type 1 PMID 8640224 1996 Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

rs137853157 in SLC12A1;LOC107984758 gene and Bartter syndrome, antenatal type 1 PMID 8640224 1996 Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

PMID 20219833 2010 Long-term follow-up of patients with Bartter syndrome type I and II.

PMID 28095294 2017 A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.

PMID 12761241 2003 Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.

PMID 9585600 1998 Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.