Article

Behavioral phenotype and neuropsychological profile of an adult with Smith-Magenis Syndrome due to a previously unreported RAI1 mutation: A case report

2024-09-26

Abstract excerpt

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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Literature Corpus work: 3f420d27-9134-5545-ad0e-4876d85ce98b
DOI: 10.22541/au.172734376.67880717/v1

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