CRS4

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul Hennekam, Laura Crisponi
American Journal of Medical Genetics - 2019

BibTex references

@Article{AUOPOOPPCASCSHC19,
  author       = {Angius, A. and Uva, P. and Oppo, M. and Persico, I. and Onano, S. and Olla, S. and Pes, V. and Perria, C. and Cuccuru, G. and Atzeni, R. and Serra, G. and Cucca, F. and Sotgiu, S. and Hennekam, R. and Crisponi, L.},
  title        = {Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP},
  journal      = {American Journal of Medical Genetics},
  year         = {2019},
  keywords     = {exome seguencing, ngs, rare diseases},
  doi          = {10.1002/ajmg.a.61052},
  url          = {http://publications.crs4.it/pubdocs/2019/AUOPOOPPCASCSHC19},
}

Other publications in the database

» Andrea Angius
» Paolo Uva
» Manuela Oppo
» Ivana Persico
» Stefano Onano
» Stefania Olla
» Valentina Pes
» Chiara Perria
» Gianmauro Cuccuru
» Rossano Atzeni
» Gigliola Serra
» Francesco Cucca
» Stefano Sotgiu
» Laura Crisponi