Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review

• Main Authors: Clelia Cipolla (Author), Linda Sessa (Author), Giulia Rotunno (Author), Giorgio Sodero (Author), Francesco Proli (Author), Chiara Veredice (Author), Valentina Giorgio (Author), Chiara Leoni (Author), Jessica Rosati (Author), Domenico Limongelli (Author), Eliza Kuczynska (Author), Elisabetta Sforza (Author), Valentina Trevisan (Author), Donato Rigante (Author), Giuseppe Zampino (Author), Roberta Onesimo (Author)
• Format: Book
• Published: MDPI AG, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<i>Background</i>: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the <i>RAI1</i> gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterole...