Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference18 articles.
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2. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure;Birkenhäger;Nat. Genet.,2001
3. Amnioreduction in the management of polyhydramnios complicating singleton pregnancies;Dickinson;Am. J. Obstet. Gynecol.,2014
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5. Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis;Garnier;Pediatr. Res.,2010
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1. Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome;BMC Medical Genomics;2024-01-18
2. Bartter syndrome in a female infant: A rare case report from Syria;SAGE Open Medical Case Reports;2024-01
3. Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy;Prenatal Diagnosis;2023-12-30
4. A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter’s Syndrome in an Adult Female;Cureus;2023-05-07
5. A case with prenatal molecular diagnosis of X-linked transient antenatal Bartter syndrome;Journal of Translational Genetics and Genomics;2023
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