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

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

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: fquintero@mednet.ucla.edu.
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.

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