A Clinical Practice Example of Smith–Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches—A Case Report
Background/Objectives: Smith–Magenis syndrome (SMS) is a rare neurogenetic disorder caused by a microdeletion in chromosome region 17p11.2 or by pathogenic variants in the RAI1 gene. The syndrome is characterized by a distinctive neurobehavioral profile, including cognitive deficits, sleep disturban...
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| Autore principale: | |
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| Natura: | Artigo |
| Lingua: | Inglês |
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MDPI AG
2026-01-01
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| Serie: | Children |
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| Accesso online: | https://www.mdpi.com/2227-9067/13/2/179 |
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