Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Overview of attention for article published in PLOS ONE, August 2011

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Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing <i>RAI1</i>

Article in OBM Genetics (March 2024)

A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene

Article in Journal of International Medical Research (September 2023)

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

Article in Genes (July 2023)