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