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First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders

Over the past five years, the MYCBP2 has emerged as a potential candidate gene associated with neurodevelopmental disorders (NDDs). In 2023, a newly characterized condition, termed MYCBP2-related developmental delay with corpus callosum defects (MDCD), has been reported in eight individuals presenti...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Maleva Kostovska I, Noveski P, Sukarova-Angelovska E, Plaseska-Karanfilska D
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sciendo 2025-10-01
Schriftenreihe:Balkan Journal of Medical Genetics
Schlagworte:
familial pathogenic variant
mycbp2
neurodevelopmental disorder
Online-Zugang:https://doi.org/10.2478/bjmg-2025-0007
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