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

Autor: Aigbogun OP; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium., Vancoppenolle N; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles Brussels Belgium., Marangoni M; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles Brussels Belgium., Elsen E; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium., Cassart M; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium.; Department of Radiology and Fetal Medicine Iris Sud Hospitals Brussels Belgium., Gounongbe C; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium.

Publikováno v: Clinical case reports [Clin Case Rep] 2024 Jul 15; Vol. 12 (7), pp. e8730. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024).