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Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.
- Source :
-
Clinical case reports [Clin Case Rep] 2024 Jul 15; Vol. 12 (7), pp. e8730. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024). - Publication Year :
- 2024
-
Abstract
- Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9 -related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.<br />Competing Interests: None declared.<br /> (© 2024 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 2050-0904
- Volume :
- 12
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Clinical case reports
- Publication Type :
- Academic Journal
- Accession number :
- 39015212
- Full Text :
- https://doi.org/10.1002/ccr3.8730