33369061Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio DAmerican journal of medical genetics. Part AAbnormalities, Multiple; Anosmia; Codon, Nonsense; Dwarfism; Heart Defects, Congenital; Hypogonadism; Loss of Function Mutation; Semaphorin-3AAlleles; Clubfoot; Female; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Kallmann Syndrome; Muscle Hypotonia; Pectus Carinatum; Phenotype; Puberty, Delayed; Scoliosis; SyndromeFurther delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.Am J Med Genet A2020-12-23T00:00:002020Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.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 nameOrganizationPersonD000015Disorders842320.867835Abnormalities, MultipleD000483Genes & Molecular Sequences29311270.757194AllelesD004392Disorders12160.990762DwarfismD007231Living Beings50923690.641593Infant, NewbornD009123Disorders20420.96031Muscle HypotoniaD005260Physiology1992444050.191167FemaleD011628Disorders10190.987015Puberty, DelayedD006330Disorders763500.784554Heart Defects, CongenitalD006801Living Beings2262862810.130052HumansD007006Disorders17370.958637HypogonadismD013577Disorders2074460.911428SyndromeAuthorship 14291780.7977020.7977021authors10.2521has subject areaD017436Disorders220.99891Kallmann SyndromeD040121Chemicals & Drugs220.994666Semaphorin-3AD059014Procedures2084550.757959High-Throughput Nucleotide SequencingD018389Chemicals & DrugsPhysiology33410.973553Codon, NonsenseD003025Disorders230.997876ClubfootD00007365836420.961858Loss of Function MutationD066166Disorders110.999004Pectus Carinatumhttps://dnatesting.uchicago.edu/Genetic Services Laboratory D006579Living Beings1553650.903231HeterozygoteD010641Physiology64723750.615854PhenotypeD012600Disorders16310.977637Scoliosishttps://genes.uchicago.edu/people/our-facultyDepartment of Human Genetics Human GeneticsUniversity of ChicagoDanielaDel GaudioDaniela Del Gaudio41.78927490000000-87.601250000000001768Del Gaudio, DanielaProfessortrue1ProfessorProfessor