Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9Pathogenic Variants

Autor: Steel, Dora Batia Dyne, Danti, Federica Rachele, Abunada, Mohamed, Kamien, Benjamin, Malhotra, Sony, Topf, Maya, Kaliakatsos, Marios, Valentine, Jane, Nemeth, Andrea Hilary, Jayawant, Sandeep, Reid, Kimberley M., Mankad, Kshitij, Sudhakar, Sniya, Ben-Pazi, Hilla, Barwick, Katy, Kurian, Manju A.
Zdroj: Neurology (Ovid); May 2023, Vol. 100 Issue: 21 pe2214-e2223, 10p
Databáze: Supplemental Index