Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects

  • Eur J Med Genet. 2014 May-Jun;57(6):267-8. doi: 10.1016/j.ejmg.2014.03.004.
Jianling Ji  1 ,  Noriko Salamon  2 ,  Fabiola Quintero-Rivera  3
Affiliations
  • 1. Division of Genetic Medicine, Department of Pathology & Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • 2. Department of Radiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • 3. Division of Genetic Medicine, Department of Pathology & Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address: [email protected].
PMID: 24657733 DOI: 10.1016/j.ejmg.2014.03.004
Keywords
CNS defect; Chromosome 1p32-p31; Hypoplastic corpus callosum; Microdeletion; NFIA gene; Urinary tract defect.