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1. Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.

Author

Aigbogun OP, Vancoppenolle N, Coppens S, Marangoni M, Elsen E, Cassart M, and Gounongbe C

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., Competing Interests: None declared., (© 2024 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Published
2024
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