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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Angham Abdulrehman Abdulakreem

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Open access 2026

A Novel 5-bp c.433-1_436delGAGTA (p.Ser145Lysfs*9) Frameshift Deletion in C22orf31 Associated with Global Developmental Delay and Microcephaly in a Saudi Consanguineous Family

A novel 5-bp deletion in the C22orf31 gene is reported in a Saudi patient with developmental delays and seizures along with microcephaly, expanding the mutational and clinical spectrum of C22orf31 mutation-related neurodevelopmental disorders in Saudi Arabia.

Md. Safayet Hossain, O. Muthaffar, Angham Abdulrehman Abdulakreem et al. · 0 citations

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