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A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

Presented by :
Maha Mansour AlNakiyah
Reema Abdulrahman AlGhofaili

Supervised by :
Dr. Maha M. AlRasheed
Associate professor of pharmacogenetics, Clinical Pharmacy Department,
College of Pharmacy, KSU.
Dr. Namik Kaya
Senior Scientist and Head, Neurogenetics Unit at King Faisal Specialist Hospital.

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