Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith‐Magenis Syndrome due to a Previously Unreported <scp> <i>RAI1</i> </scp> Mutation: A Case Report
Smith-Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss-of-function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be recognized by clinicians.
Authors
- Ana Patiño‐García (ORCID: https://orcid.org/0000-0002-4066-8203)
- Julen Arellano‐Sandúa
- Edgar Andrés Chavarría‐Martínez
- Adrián Cano‐Prous
- Ruth Arias‐Hidalgo
Institutions
- Clinica Universidad de Navarra (ES)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-02-26
- DOI
- https://doi.org/10.1002/ccr3.72114
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00