23756445Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard LEuropean journal of human genetics : EJHGAdaptor Protein Complex sigma Subunits; Basal Ganglia Diseases; Dandy-Walker Syndrome; Mental Retardation, X-Linked; Mutation; SeizuresAdolescent; Adult; Amino Acid Sequence; Child; Chromosomes, Human, X; Exome; Humans; Male; Molecular Sequence Data; Pedigree; Polymorphism, Single NucleotideAP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar; 22(3):363-8.Eur J Hum Genet2013-06-12T00:00:002013AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).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 nameOrganizationPersonD000293Living Beings111389680.40057AdolescentD000595Genes & Molecular Sequences43920620.736832Amino Acid SequenceD000328Living Beings1578255770.254454AdultD001480Disorders990.994038Basal Ganglia DiseasesD002648Living Beings93969130.440068ChildD003616Disorders4200.984164Dandy-Walker SyndromeD008969Concepts & IdeasGenes & Molecular Sequences56030290.690359Molecular Sequence DataD009154Physiology70239520.442682MutationD010375Concepts & Ideas1929660.83743PedigreeD006801Living Beings2262862810.130064HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201635MaleD059472Genes & Molecular Sequences621270.928729ExomeD038901Disorders6180.978015Mental Retardation, X-LinkedD034002Chemicals & Drugs110.999409Adaptor Protein Complex sigma SubunitsD012640Disorders992930.814443SeizuresD020641Genes & Molecular Sequences32223500.535662Polymorphism, Single NucleotideD041321Anatomy42550.956198Chromosomes, Human, XHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 7397320.1182950.1182951authors10.2517has subject area