Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

A. T. G. Chiu, S. L. C. Pei, C. C. Y. Mak, G. K. C. Leung, M. H. C. Yu, S. L. Lee, M. Vreeburg, R. Pfundt, I. van der Burgt, T. Kleefstra, T. M. -T. Frederic, S. Nambot, L. Faivre, A. -L. Bruel, M. Rossi, B. Isidor, S. Kury, B. Cogne, T. Besnard, M. WillemsM. R. F. Reijnders, B. H. Y. Chung

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)880-890
Number of pages11
JournalClinical Genetics
Volume93
Issue number4
DOIs
Publication statusPublished - 1 Apr 2018

Keywords

  • CSNK2A1
  • developmental delay
  • Okur-Chung syndrome
  • whole exome sequencing
  • PROTEIN-KINASE CK2
  • DE-NOVO MUTATIONS
  • INTELLECTUAL DISABILITY
  • DYSMORPHIC FEATURES
  • CATALYTIC-SUBUNIT
  • PROLIFERATION
  • ABNORMALITIES
  • DISORDERS
  • NETWORK

Cite this

Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M. -T., Nambot, S., Faivre, L., Bruel, A. -L., Rossi, M., Isidor, B., Kury, S., Cogne, B., Besnard, T., ... Chung, B. H. Y. (2018). Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical Genetics, 93(4), 880-890. https://doi.org/10.1111/cge.13196