title: A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.
authors.affiliation: Sheffield Institute for Translational Neuroscience, Sheffield, South Yorkshire, UK.
authors.forename: Azeem
authors.initials: A
authors.lastname: Siddique
authors.affiliation: Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK.
authors.forename: Josh
authors.initials: J
authors.lastname: Willoughby
authors.affiliation: Sheffield Institute for Translational Neuroscience, Sheffield, South Yorkshire, UK.|Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK.|INSIGNEO Institute for In Silico Medicine, The University of Sheffield, Sheffield, South Yorkshire, UK.
authors.forename: Alisdair
authors.identifier: 0000-0001-5702-3631
authors.initials: A
authors.lastname: McNeill
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics / Q000503:physiopathology; D057895:Haploinsufficiency / Q000235:genetics*; D017228:Hepatocyte Growth Factor / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C425903:CACNA2D1 protein, human; D015220:Calcium Channels; D003598:Cytoskeletal Proteins; C066855:HGF protein, human; D009479:Neuropeptides; C498630:PCLO protein, human; D017228:Hepatocyte Growth Factor