Genetic & Genomic MedicinemedRxivPreprint
CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.
Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian…·Roser Urreizti
This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.
DOI 10.1101/2024.11.27.24317634