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

Background: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obe...

Descripción completa

Detalles Bibliográficos
Autores principales: Cipolla, Clelia, Sessa, Linda, Rotunno, Giulia, Sodero, Giorgio, Proli, Francesco, Veredice, Chiara, Giorgio, Valentina, Leoni, Chiara, Rosati, Jessica, Limongelli, Domenico, Kuczynska, Eliza, Sforza, Elisabetta, Trevisan, Valentina, Rigante, Donato, Zampino, Giuseppe, Onesimo, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10527612/
https://www.ncbi.nlm.nih.gov/pubmed/37761412
http://dx.doi.org/10.3390/children10091451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10527612/
https://www.ncbi.nlm.nih.gov/pubmed/37761412
http://dx.doi.org/10.3390/children10091451

Ejemplares similares