Behavioral phenotype and neuropsychological profile of an adult with
Smith-Magenis Syndrome due to a previously unreported RAI1 mutation: A
case report
Abstract
Smith-Magenis Syndrome (SMS) is an uncommon genetic disorder caused by
microdeletions of chromosome 17p11.2 including the RAI1 gene, or
loss-of-function mutations that directly affect RAI1. Due to the
involvement of RAI1 in neurodevelopment, SMS leads to typical
pathologic features in the behavioral and physical phenotype that must
be recognized by clinicians
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