Co-Occurring Methylenetetrahydrofolate Reductase ( MTHFR ) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.
Jatinder SinghGeorgina WilkinsElla Goodman-VincentSamiya ChishtiRuben Bonilla GuerreroLeighton McFaddenZvi ZahaviParamala J SantoshPublished in: Brain sciences (2024)
rs1801133 and rs1801131 polymorphisms may act as associative genetic modifiers of clinical severity in a subset of patients. Profiling of rs1801133 and rs1801131 in RTT may therefore be useful, especially for high-risk patients who may be at the most risk from symptom deterioration.