Structural Variant Allelic Heterogeneity in MECP2 Duplication Syndrome Provides Insight into Clinical Severity and Variability of Disease Expression

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
MECP2 duplication syndrome   structural variant   allelic heterogeneity   clinical severity   disease expression   genomic rearrangement   phenotypic traits  

Study of Structural Variation in MECP2 Duplication Syndrome and Its Phenotypic Variability Academic Background MECP2 Duplication Syndrome (MRXSL) is an X-linked genomic disorder primarily caused by an increase in the copy number of the MECP2 gene on the X chromosome. This condition predominantly affects males, and its clinical features vary widely,...