title: Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome.
abstract: Long predicted from studies of model vertebrates, the first human example of abnormal patterning of the early neural tube leading to underdevelopment of the cerebellum has been demonstrated.
authors.affiliation: Parthiv Haldipur is in the Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, United States parthiv.haldipur@seattlechildrens.org.
authors.forename: Parthiv
authors.initials: P
authors.lastname: Haldipur
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Millen
mesh_terms: D000818:Animals; D058747:CHARGE Syndrome / Q000378:metabolism*; D065814:Cerebellar Vermis / Q000378:metabolism*; D051524:Fibroblast Growth Factor 8 / Q000378:metabolism*; D018398:Homeodomain Proteins / Q000378:metabolism*; D006801:Humans; D051857:Otx Transcription Factors / Q000378:metabolism*
chemical_list: C496457:Fgf8 protein, mouse; C513182:Gbx2 protein, mouse; D018398:Homeodomain Proteins; D051857:Otx Transcription Factors; C497660:Otx2 protein, mouse; D051524:Fibroblast Growth Factor 8
keywords: CHARGE syndrome; CHD7; Cerebellar malformation; FGF8; OTX2/GBX2; cerebellum