title: Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
authors.affiliation: Division of Genetic Medicine, Department of Pathology & Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors.forename: Jianling
authors.initials: J
authors.lastname: Ji
authors.affiliation: Department of Radiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors.forename: Noriko
authors.initials: N
authors.lastname: Salamon
authors.affiliation: Division of Genetic Medicine, Department of Pathology & Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address: fquintero@mednet.ucla.edu.
authors.forename: Fabiola
authors.initials: F
authors.lastname: Quintero-Rivera
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D003337:Corpus Callosum / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D051839:NFI Transcription Factors / Q000235:genetics*; D014551:Urinary Tract / Q000002:abnormalities*
chemical_list: D051839:NFI Transcription Factors
keywords: CNS defect; Chromosome 1p32-p31; Hypoplastic corpus callosum; Microdeletion; NFIA gene; Urinary tract defect