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 PassemardPublished in: Journal of medical genetics (2020)
NCT01565005.