Abstract:Smith-Magenis syndrome (SMS) is a complex genetic developmental disorder characterized by distinctive physical features, cognitive impairment, developmental delay, and behavioral abnormalities. It is caused by a microdeletion of chromosome band 17p11.2 encoding for multiple genes including the Retinoic-acidinduced (RAI1) gene. RAI1 gene is expressed in many tissues, acting as a transcriptional regulator. It is a dosage-sensitive gene. The variants of the RAI1 gene have been explored with some contributing to s… Show more
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