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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...

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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

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