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

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...

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Detalles Bibliográficos
Autores principales: Linders, Cathelijne C., van Eeghen, Agnies M., Zinkstok, Janneke R., van den Boogaard, Marie-José, Boot, Erik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453904/
https://www.ncbi.nlm.nih.gov/pubmed/37628566
http://dx.doi.org/10.3390/genes14081514

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453904/
https://www.ncbi.nlm.nih.gov/pubmed/37628566
http://dx.doi.org/10.3390/genes14081514

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