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Article

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Genes - 25 Jul 2023

Linders Cathelijne C, van Eeghen Agnies M, Zinkstok Janneke R, van den Boogaard Marie-José, Boot Erik

Abstract excerpt

AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behavioral disturbances. To explore how genetic variants may affect intellectual functioning and behavior, we compared intellectual and behavioral phenotypes between...

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PMID: 37628566
DOI: 10.3390/genes14081514
PMCID: PMC10453904

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