Genetic & Genomic MedicineFrontiers in GeneticsPeer-reviewed
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
Evan M. Lee, Megha Verma, Nila Palaniappan…·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.
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