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...
Tallennettuna:
| Päätekijät: | , , , , , , , , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
MDPI AG
2023-08-01
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| Sarja: | Children |
| Aiheet: | |
| Linkit: | https://www.mdpi.com/2227-9067/10/9/1451 |
| Tagit: |
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