TY  - GEN
AU  - Johansen,Anide
AU  - Rosti,Rasim O
AU  - Musaev,Damir
AU  - Sticca,Evan
AU  - Harripaul,Ricardo
AU  - Zaki,Maha
AU  - Çağlayan,Ahmet Okay
AU  - Azam,Matloob
AU  - Sultan,Tipu
AU  - Froukh,Tawfiq
AU  - Reis,André
AU  - Popp,Bernt
AU  - Ahmed,Iltaf
AU  - John,Peter
AU  - Ayub,Muhammad
AU  - Ben-Omran,Tawfeg
AU  - Vincent,John B
AU  - Gleeson,Joseph G
AU  - Abou Jamra,Rami
TI  - Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
SN  - 1537-6605
PY  - 2017///0524
KW  - Acyltransferases
KW  - genetics
KW  - Arachidonic Acid
KW  - metabolism
KW  - Autistic Disorder
KW  - complications
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - Epilepsy
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Lysophospholipids
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Pedigree
KW  - Phosphatidylinositols
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2016.07.019
ER  -