A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.

@article{Zahir2008APW,
  title={A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.},
  author={Farah R. Zahir and Agnes Baross and Allen D. Delaney and Patrice Eydoux and N D Fernandes and Terrence Pugh and Marco A. Marra and Jan M Friedman},
  journal={Journal of medical genetics},
  year={2008},
  volume={45 4},
  pages={239-43}
}
The authors report a patient with mild mental retardation, autistic features, multiple vertebral malformations, and an unusual facial appearance who carries a de novo submicroscopic deletion of chromosome 2p16.3. The patient's deletion is approximately 320 kb in size and includes only the part of the NRXN1 gene that codes for the neurexin1alpha promoter and initial coding exons. The more downstream neurexin1beta promoter and the region surrounding it are intact. Neurexin1beta has been… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 51 extracted citations

Similar Papers

Loading similar papers…