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

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

Genes（2023）

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摘要

The results of this study suggest that 17p11.2 deletions are associated with a lower level of intellectual functioning and less internalizing of problems compared to pathogenic variants. The findings of this study may contribute to personalized-management strategies in individuals with SMS.

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关键词

17p11.2 deletion,Smith–Magenis syndrome,behavioral problems,intellectual disability,pathogenic RAI1 variant,rare disorders

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