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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Autor principal:	Oleksandr Shevchenko
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2026-01-01
Col·lecció:	Children
Matèries:	Smith-Magenis syndrome 17p11.2 deletion RAI1 neurogenetics sleep disorder developmental disorder
Accés en línia:	https://www.mdpi.com/2227-9067/13/2/179
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