Naseer, Muhammad Imran

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family. [electronic resource] - Journal of the neurological sciences Dec 2016 - 121-125 p. digital

Publication Type: Case Reports; Journal Article

1878-5883

10.1016/j.jns.2016.10.027 doi


Brain--physiopathology
Child, Preschool
Developmental Disabilities--genetics
Epilepsy--genetics
Family
Female
Humans
Intellectual Disability--genetics
Male
Microcephaly--genetics
Mutation, Missense
Nuclear Proteins--genetics
Saudi Arabia