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K. Teralı

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Open access Sep 2026

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

The findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals.

Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al. · 0 citations

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