QR-koodi

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI AG 2023-08-01
Sarja:Children
Aiheet:
Linkit:https://www.mdpi.com/2227-9067/10/9/1451
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!