CRS4

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Andrea Angius, Silvia Cossu, Paolo Uva, Manuela Oppo, Stefano Onano, Ivana Persico, Giorgio Fotia, Rossano Atzeni, Gianmauro Cuccuru, M Asunis, Francesco Cucca, Dario Pruna, Laura Crisponi
Clinical Genetics - february 2018

BibTex references

@Article{ACUOOPFACACPC18,
  author       = {Angius, A. and Cossu, S. and Uva, P. and Oppo, M. and Onano, S. and Persico, I. and Fotia, G. and Atzeni, R. and Cuccuru, G. and Asunis, M. and Cucca, F. and Pruna, D. and Crisponi, L.},
  title        = {Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome},
  journal      = {Clinical Genetics},
  month        = {february},
  year         = {2018},
  keywords     = {ngs, exome sequencing, rare disease},
  doi          = {10.1111/cge.13162},
  url          = {http://publications.crs4.it/pubdocs/2018/ACUOOPFACACPC18},
}

Other publications in the database

» Andrea Angius
» Silvia Cossu
» Paolo Uva
» Manuela Oppo
» Stefano Onano
» Ivana Persico
» Giorgio Fotia
» Rossano Atzeni
» Gianmauro Cuccuru
» M Asunis
» Francesco Cucca
» Dario Pruna
» Laura Crisponi