CRS4

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi
BMC Medical Genetics - 2019

BibTex references

@Article{AUO.POCAC.AC19,
  author       = {Alves, R. and Uva, P. and Oppo, M. and ...,  . and Persico, I. and Onano, S. and Cuccuru, G. and Atzeni, R. and Cucca, F. and ..., .. and Angius, A. and Crisponi, L.},
  title        = {Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report},
  journal      = {BMC Medical Genetics},
  year         = {2019},
  keywords     = {exome seguencing, ngs},
  doi          = {10.1186/s12881-019-0745-7},
  url          = {http://publications.crs4.it/pubdocs/2019/AUO.POCAC.AC19},
}

Other publications in the database

» Paolo Uva
» Manuela Oppo
» ...
» Ivana Persico
» Stefano Onano
» Gianmauro Cuccuru
» Rossano Atzeni
» Francesco Cucca
» . ...
» Andrea Angius
» Laura Crisponi