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. Epub 2014 Mar 18.

Authors

Jianling Ji¹, Noriko Salamon², Fabiola Quintero-Rivera³

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

No abstract available

Keywords: CNS defect; Chromosome 1p32-p31; Hypoplastic corpus callosum; Microdeletion; NFIA gene; Urinary tract defect.

Publication types

Letter
Comment

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics*
Chromosome Deletion*
Corpus Callosum / pathology*
Craniofacial Abnormalities / genetics*
Female
Humans
NFI Transcription Factors / genetics*
Urinary Tract / abnormalities*

Substances

NFI Transcription Factors