Johansen, Anide Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. [electronic resource] - American journal of human genetics Oct 2016 - 912-916 p. digital Publication Type: Journal Article ISSN: 1537-6605 Standard No.: 10.1016/j.ajhg.2016.07.019 doi Subjects--Topical Terms: Acyltransferases--geneticsArachidonic Acid--metabolismAutistic Disorder--complicationsChildChild, PreschoolConsanguinityEpilepsy--complicationsFemaleHomozygoteHumansInfantIntellectual Disability--complicationsLysophospholipids--metabolismMaleMembrane Proteins--geneticsMutationPedigreePhosphatidylinositols--metabolism