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Tehmeena Akhter

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Open access Sep 2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family

This study expands the mutational landscape of CCDC82 and provides additional clinical and molecular evidence supporting its role in autosomal recessive NDD, reinforcing the importance of CCDC82 in human neurodevelopment and highlighting the value of genomic investigation in underrepresented populations.

Tehmeena Akhter, S. Khan, Ahmed Abdul Mumeen et al. · 0 citations

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