Work

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith‐Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report

Year: 2026

Type: article

Abstract: 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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.72114

Authors: Edgar Andrés Chavarría‐Martínez, Julen Arellano‐Sandúa, Ruth Arias‐Hidalgo, Ana Patiño‐García, Adrián Cano‐Prous

Institutions: Clinica Universidad de Navarra, Universidad de Navarra

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820