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

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

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