Primrose syndrome: Characterization of the phenotype in 42 patients

Daniela Melis*, Daniel Carvalho, Tina Barbaro-Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica Gerkes, Marrit M. Hitzert, Hanne B. Hove, Sandra Jansen, Petr E. Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari SandovalConstance Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. Hennekam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)890-901
Number of pages12
JournalClinical Genetics
Volume97
Issue number6
DOIs
Publication statusPublished - Jun 2020

Keywords

  • alpha-fetoprotein
  • ectopic calcifications
  • overgrowth
  • Primrose syndrome
  • ZBTB20
  • FINGER PROTEIN ZBTB20
  • MUTATIONS
  • DIFFERENTIATION
  • ABNORMALITIES
  • CANCER
  • ALPHA

Cite this

Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., ... Hennekam, R. C. (2020). Primrose syndrome: Characterization of the phenotype in 42 patients. Clinical Genetics, 97(6), 890-901. https://doi.org/10.1111/cge.13749