Article

Identification of Rare Variants Causing Early-Onset Bartter Syndrome: a Clinical, Genetic, and Biophysical Study

2023-05-23

Abstract excerpt

<h4>Objective: </h4> Bartter syndrome (BS) is a rare congenital renal tubular disease. 2 children with BS were recruited and experienced a series of ultrasound, biochemical, genetic investigation. <h4>Methods: </h4> Genomic DNA was obtained from the probands and family members for trio-whole-exome sequencing, copy number variation analysis and Sanger Sequencing <h4>Results: </h4> Four variants were detected from t...

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Literature Corpus work: 5575991d-3212-5b90-b378-f842b483dea6
DOI: 10.21203/rs.3.rs-2960168/v1

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