TY  - GEN
AU  - Naseer,Muhammad Imran
AU  - Rasool,Mahmood
AU  - Jan,Mohammed M
AU  - Chaudhary,Adeel G
AU  - Pushparaj,Peter Natesan
AU  - Abuzenadah,Adel M
AU  - Al-Qahtani,Mohammad H
TI  - A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family
SN  - 1878-5883
PY  - 2017///0526
KW  - Brain
KW  - physiopathology
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - genetics
KW  - Epilepsy
KW  - Family
KW  - Female
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Mutation, Missense
KW  - Nuclear Proteins
KW  - Saudi Arabia
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.jns.2016.10.027
ER  -