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dc.contributor.authorGal, Moran
dc.contributor.authorKidd, Alexa M. J.
dc.contributor.authorKimonis, Virginia
dc.contributor.authorLin, Angela E.
dc.contributor.authorLynch, Sally Ann
dc.contributor.authorMaisenbacher, Melissa
dc.contributor.authorMansour, Sahar
dc.contributor.authorMcGaughran, Julie
dc.contributor.authorMehta, Lakshmi
dc.contributor.authorMurphy, Helen
dc.contributor.authorRaygada, Margarita
dc.contributor.authorRobin, Nathaniel H.
dc.contributor.authorRope, Alan F.
dc.contributor.authorRosenbaum, Kenneth N.
dc.contributor.authorSchaefer, G. Bradley
dc.contributor.authorShealy, Amy
dc.contributor.authorSmith, Wendy
dc.contributor.authorSoller, Maria
dc.contributor.authorSommer, Annmarie
dc.contributor.authorStalker, Heather J.
dc.contributor.authorSteiner, Bernhard
dc.contributor.authorStephan, Mark J.
dc.contributor.authorTilstra, David
dc.contributor.authorTomkins, Susan
dc.contributor.authorTrapane, Pamela
dc.contributor.authorTsai, Anne Chun-Hui
dc.contributor.authorVan Allen, Margot I.
dc.contributor.authorVasudevan, Pradeep C.
dc.contributor.authorZabel, Bernhard
dc.contributor.authorZunich, Janice
dc.contributor.authorBlack, Graeme C. M.
dc.contributor.authorBiesecker, Leslie G.
dc.contributor.authorKayserili, Hulya
dc.contributor.authorJohnston, Jennifer J.
dc.contributor.authorSapp, Julie C.
dc.contributor.authorTurner, Joyce T.
dc.contributor.authorAmor, David
dc.contributor.authorAftimos, Salim
dc.contributor.authorAleck, Kyrieckos A.
dc.contributor.authorBocian, Maureen
dc.contributor.authorBodurtha, Joann N.
dc.contributor.authorCox, Gerald F.
dc.contributor.authorCurry, Cynthia J.
dc.contributor.authorDay, Ruth
dc.contributor.authorDonnai, Dian
dc.contributor.authorField, Michael
dc.contributor.authorFujiwara, Ikuma
dc.contributor.authorGabbett, Michael
dc.contributor.authorGraham, John M.
dc.contributor.authorHedera, Peter
dc.contributor.authorHennekam, Raoul C. M.
dc.contributor.authorHersh, Joseph H.
dc.contributor.authorHopkin, Robert J.
dc.date.accessioned2021-03-04T18:04:18Z
dc.date.available2021-03-04T18:04:18Z
dc.date.issued2010
dc.identifier.citationJohnston J. J. , Sapp J. C. , Turner J. T. , Amor D., Aftimos S., Aleck K. A. , Bocian M., Bodurtha J. N. , Cox G. F. , Curry C. J. , et al., "Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations", HUMAN MUTATION, cilt.31, ss.1142-1154, 2010
dc.identifier.issn1059-7794
dc.identifier.otherav_88c5caf1-2ba4-448c-bf42-abd4f5ada197
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/92787
dc.identifier.urihttps://doi.org/10.1002/humu.21328
dc.description.abstractA range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.titleMolecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
dc.typeMakale
dc.relation.journalHUMAN MUTATION
dc.contributor.departmentNational Institutes of Health (NIH) - USA , ,
dc.identifier.volume31
dc.identifier.issue10
dc.identifier.startpage1142
dc.identifier.endpage1154
dc.contributor.firstauthorID197889


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