28371479Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio DAmerican journal of medical genetics. Part AAlu Elements; Coloboma; Hearing Loss, Conductive; Heart Defects, Congenital; Ichthyosis; Intellectual Disability; N-Acetylglucosaminyltransferases; Neurocutaneous Syndromes; Sequence DeletionAlleles; Child, Preschool; Humans; Introns; MaleAlu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.Am J Med Genet A2017-03-28T00:00:002017Alu-mediated deletion of PIGL in a Patient with CHIME 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:mainImagephotoprns: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:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000483Genes & Molecular Sequences29311270.757194AllelesAuthorship 10240750.6155430.6155431authors10.2514has subject areaD003103Disorders4120.992567ColobomaD002675Living Beings65236080.594942Child, PreschoolD007438Chemicals & Drugs1212890.904013IntronsD006314Disorders7170.965894Hearing Loss, ConductiveD008607Disorders651850.890678Intellectual DisabilityD006330Disorders763500.784554Heart Defects, CongenitalD006801Living Beings2262862810.130052HumansD008297Physiology1931408600.201617MaleD017351Chemicals & Drugs10130.991098N-AcetylglucosaminyltransferasesD017384Disorders1292050.92936Sequence DeletionD020087Chemicals & Drugs14150.981085Alu ElementsD020752Disorders5120.985734Neurocutaneous Syndromeshttps://dnatesting.uchicago.edu/Genetic Services Laboratory D007057Disorders220.996851Ichthyosishttps://genes.uchicago.edu/people/our-facultyDepartment of Human Genetics Human GeneticsUniversity of ChicagoDanielaDel GaudioDaniela Del Gaudio41.78927490000000-87.601250000000001768Del Gaudio, DanielaProfessortrue1ProfessorProfessor