34087052Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GMAmerican journal of medical genetics. Part ABrain; Cyclin D2; Hydrocephalus; Megalencephaly; Mutation; Polydactyly; PolymicrogyriaAdolescent; Adult; Child; Female; Humans; Infant; MaleProximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Am J Med Genet A. 2021 09; 185(9):2719-2738.Am J Med Genet A2021-06-04T00:00:002021Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.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 Beings111389680.400538AdolescentD000328Living Beings1578255770.254432AdultD001921Anatomy49222110.472349BrainD002648Living Beings93969130.440034ChildD007223Living Beings60430360.61304InfantD009154Physiology70239520.442648MutationD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleAuthorship 14689950.2056910.2056911authors10.2514has subject areaD017689Disorders180.993601PolydactylyD058627Disorders6210.974869MegalencephalyD056742Chemicals & Drugs17190.993394Cyclin D2D065706Disorders2100.989871PolymicrogyriaD006849Disorders351010.902642HydrocephalusHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR