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. Hypercholesterolemia has been described i...

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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	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
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	MDPI AG 2023-08-01
سلاسل:	Children
الموضوعات:	Smith-Magenis syndrome obesity hypercholesterolemia lipids insulin diabetes
الوصول للمادة أونلاين:	https://www.mdpi.com/2227-9067/10/9/1451
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!