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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Hala NasserLiza VeraMonique Elmaleh-BergèsKatharina SteindlPascaline LetardNatacha TeissierAnais ErnaultFabien GuimiotAlexandra AfenjarMarie Laure MoutardDelphine HéronYves AlembikMartha MomtchilovaPaolo MilaniNathalie KubisNathalie PouvreauMarcella ZollinoSophie Guilmin CreponFlorentia KaguelidouPierre GressensAlain VerloesAnita RauchVincent El GhouzziSeverine DrunatSandrine Passemard
Published in: Journal of medical genetics (2020)
NCT01565005.
Keyphrases
  • zika virus
  • optical coherence tomography
  • intellectual disability
  • diabetic retinopathy
  • cell cycle
  • hearing loss
  • optic nerve
  • autism spectrum disorder