Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
Evan M. Lee, Megha Verma, Nila Palaniappan, Emiko M. Pope, Sammie Lee, Lindsey Blacher, Pooja Neerumalla, William An, Toko Campbell, CRIS M. BROWN, Stacy Hurst, Bess Adkins Marshall, Tamara G. Hershey, Virginia Nunes, Miguel López de Heredia, Fumihiko Urano
This study investigates the genotype-phenotype relationship in Wolfram syndrome, finding that specific WFS1 gene variants correlate with earlier onset and more severe disease manifestations.
Frontiers in Genetics · Jun 21, 2023Peer-reviewedGenetic & Genomic Medicine