Phenotypic and molecular insights into CASK-related disorders in males

Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E. de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger Yntema, Bjoern Menten, Joachim Pietz, Rolph Pfundt, Joerg Schmidtke, Doris Steinemann, Constance T. Stumpel, Lionel Van Maldergem, Kerstin Kutsche

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)
Original languageEnglish
Article number44
JournalOrphanet Journal of Rare Diseases
Volume10
DOIs
Publication statusPublished - 12 Apr 2015

Keywords

  • CASK
  • Microcephaly
  • Nystagmus
  • Pontocerebellar hypoplasia
  • X-linked intellectual disability

Cite this

Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L., & Kutsche, K. (2015). Phenotypic and molecular insights into CASK-related disorders in males. Orphanet Journal of Rare Diseases, 10, [44]. https://doi.org/10.1186/s13023-015-0256-3