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Developmental Regression Analysis And Investigation Of Genotype Correlations In Individuals With Classic Rett Syndrome, Aubrey Lynn Rose
Developmental Regression Analysis And Investigation Of Genotype Correlations In Individuals With Classic Rett Syndrome, Aubrey Lynn Rose
Theses and Dissertations
Rett syndrome (RTT) is a neurodevelopmental disorder impacting 1 in 10,000 females worldwide, making it one of the most common causes of complex disability in girls. RTT is caused by pathogenic variants in the MECP2 gene and is characterized by developmental regression, stereotypical hand movements, and an abnormal gait. Despite consistency in the presence of these core features, a wide range of features and varying severity can be observed in girls with RTT. Similarly, the particular type of MECP2 variant present also differs between patients. Previous studies have assessed correlations between genotype and phenotype in patients with RTT. While past …