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

Références BibTex

@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          = {https://publications.crs4.it/pubdocs/2019/AUOPOOPPCASCSHC19},
}

Autres publications dans la base