Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic <i>RAI1</i> Variant

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic <i>RAI1</i> Variant

Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the <i>RAI1</i> gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behavioral disturbances. To explore ho...

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Bibliographic Details
Main Authors: Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie-José van den Boogaard, Erik Boot
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
Smith–Magenis syndrome
17p11.2 deletion
pathogenic <i>RAI1</i> variant
behavioral problems
intellectual disability
rare disorders
Online Access:https://www.mdpi.com/2073-4425/14/8/1514

Internet

https://www.mdpi.com/2073-4425/14/8/1514

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