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

I Maleva Kostovska1, P Noveski1, E Sukarova-Angelovska2

  • 1Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, North Macedonia.

Balkan Journal of Medical Genetics : BJMG
|November 7, 2025
PubMed
Summary

A novel MYCBP2 gene variant causes neurodevelopmental disorders (NDDs) in a family. This finding expands understanding of MYCBP2-related developmental delay with corpus callosum defects (MDCD) syndrome.

Keywords:
MYCBP2familial pathogenic variantneurodevelopmental disorder

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