19165920Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche KNature geneticsBrain Stem; Cerebellum; Genetic Diseases, X-Linked; Guanylate Kinases; Microcephaly; MutationChild, Preschool; Ear; Female; Humans; Male; Mental Retardation, X-Linked; Reelin Protein; SyndromeMutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep; 40(9):1065-7.Nat Genet2008-09-01T00:00:002008Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD001933Anatomy651650.923215Brain StemD002531Anatomy842470.85133CerebellumD002675Living Beings65236080.594978Child, PreschoolD004423Anatomy13180.987966EarD008831Disorders19750.955455MicrocephalyD009154Physiology70239520.442682MutationD005260Physiology1992444050.191184FemaleD006801Living Beings2262862810.130064HumansD013577Disorders2074460.911443SyndromeWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201635MaleD040181Disorders25340.970726Genetic Diseases, X-LinkedD038901Disorders6180.978015Mental Retardation, X-LinkedD051528Chemicals & Drugs9120.992351Guanylate KinasesHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 73625140.08494720.08494721authors10.2513has subject area