An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

@article{Rao2014AnID,
  title={An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.},
  author={Anupam Rao and Sheridan O'Donnell and Nicole L. Bain and Cliff J. Meldrum and Damon Shorter and Himanshu Goel},
  journal={European journal of medical genetics},
  year={2014},
  volume={57 2-3},
  pages={65-70}
}
BACKGROUND Chromosome 1p31 deletion (OMIM #613735) involving the NFIA gene (OMIM 600727) is characterised by variable defects in the formation of the corpus callosum, craniofacial abnormalities and urinary tract defects. A review of current literature suggests only seven cases have been reported, none of which had an isolated NFIA gene defect. METHODS We submit the clinical and molecular features of an 8-year-old female patient with a microdeletion of chromosome 1p31.3 who has developmental… CONTINUE READING

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