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

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

<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...

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Main Authors: Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli, Chiara Veredice, Valentina Giorgio, Chiara Leoni, Jessica Rosati, Domenico Limongelli, Eliza Kuczynska, Elisabetta Sforza, Valentina Trevisan, Donato Rigante, Giuseppe Zampino, Roberta Onesimo
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Children
Subjects:
Smith-Magenis syndrome
obesity
hypercholesterolemia
lipids
insulin
diabetes
Online Access:https://www.mdpi.com/2227-9067/10/9/1451

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