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

Auteurs

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

  • Date de publication

    Juli 2024

  • Type

    Article

  • Tijdschrift

    Clin Case Rep

  • Naam van de onderzoeker

    Coppens Sandra

  • Hôpital

    Hôpital Erasme

  • Dienst

    Génétique

  • PMID

    39015212

  • DOI

    10.1002/ccr3.8730