title: Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation.
authors.affiliation: Division of Orthopedics, Orthopedics Clinic, University of Catania, Catania, Italy. ppavone@unict.it
authors.forename: Vito
authors.initials: V
authors.lastname: Pavone
authors.forename: Andrea Domenico
authors.initials: AD
authors.lastname: Praticò
authors.forename: Enrico
authors.initials: E
authors.lastname: Parano
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D001772:Blood Cell Count; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002652:Child Behavior; D006391:Hemangioma / Q000151:congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology*; D013131:Spine / Q000002:abnormalities*
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)