title: Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication.
authors: Northern Ireland Regional Genetics Service, Belfast HSC Trust Department of Medical Genetics, Queens University Belfast Department of Neuroradiology, Royal Victoria Hospital, Belfast, UK Department of Genetics, Royal College of Surgeons Ireland National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland.
authors: Gillian
authors: G
authors: Rea
authors: Ray L
authors: RL
authors: Stallings
authors: Marice
authors: M
authors: Mullarkey
authors: C Steven
authors: CS
authors: McKinstry
authors: David
authors: D
authors: McManus
authors: Patrick J
authors: PJ
authors: Morrison
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging*; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology; D008297:Male; D011859:Radiography; D016728:Self-Injurious Behavior / Q000235:genetics; D014314:Trisomy / Q000235:genetics* / Q000473:pathology*; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins