Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals wi...
Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic IRAI1/I Variant
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Publisher
MDPI AG
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Language
English
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Publisher
MDPI AG
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Contents
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,...
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Full title
Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic IRAI1/I Variant
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TN_cdi_gale_infotracmisc_A762478861
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A762478861
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes14081514
