21416597Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini RAmerican journal of medical genetics. Part AAcrocallosal Syndrome; Epilepsy; Homeodomain Proteins; Intellectual Disability; Mutation, Missense; Quadriplegia; Transcription FactorsAmino Acid Sequence; Humans; Male; Molecular Sequence Data; Pedigree; Phenotype; Radiography; Sequence Alignment; Young AdultCorpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. Am J Med Genet A. 2011 Apr; 155A(4):892-7.Am J Med Genet A2011-03-17T00:00:002011Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.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 nameOrganizationPersonD000595Genes & Molecular Sequences43920620.736832Amino Acid SequenceD004827Disorders803950.728734EpilepsyD008969Concepts & IdeasGenes & Molecular Sequences56030290.690359Molecular Sequence DataD008607Disorders651850.890696Intellectual DisabilityD010375Concepts & Ideas1929660.83743PedigreeD014157Chemicals & Drugs40615550.562935Transcription FactorsD011782Disorders19220.991012QuadriplegiaD011859Procedures3348120.834645RadiographyD006801Living Beings2262862810.130064HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201635MaleD016415Procedures1893510.914117Sequence AlignmentD020125Physiology1342760.870272Mutation, MissenseD055673Disorders120.999013Acrocallosal SyndromeD018398Chemicals & Drugs1905350.738016Homeodomain ProteinsD010641Physiology64723750.61589PhenotypeD055815Living Beings97159610.42324Young AdultHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 7886550.1012860.1012861authors10.2516has subject area