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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

dc.contributor.authorElcioglu, Nursel
dc.contributor.authorvan Maarle, Merel C.
dc.contributor.authorGraul-Neumann, Luitgard M.
dc.contributor.authorDevriendt, Koenraad
dc.contributor.authorSmithson, Sarah F.
dc.contributor.authorWellesley, Diana
dc.contributor.authorVerbeek, Nienke E.
dc.contributor.authorHennekam, Raoul C. M.
dc.contributor.authorKayserili, Hulya
dc.contributor.authorScambler, Peter J.
dc.contributor.authorBeales, Philip L.
dc.contributor.authorKnoers, Nine V. A. M.
dc.contributor.authorRoepman, Ronald
dc.contributor.authorMitchison, Hannah M.
dc.contributor.authorYntema, Jan-Bart L.
dc.contributor.authorSchmidts, Miriam
dc.contributor.authorArts, Heleen H.
dc.contributor.authorBongers, Ernie M. H. F.
dc.contributor.authorYap, Zhimin
dc.contributor.authorOud, Machteld M.
dc.contributor.authorAntony, Dinu
dc.contributor.authorDuijkers, Lonneke
dc.contributor.authorEmes, Richard D.
dc.contributor.authorStalker, Jim
dc.contributor.authorPlagnol, Vincent
dc.contributor.authorHoischen, Alexander
dc.contributor.authorGilissen, Christian
dc.contributor.authorForsythe, Elisabeth
dc.contributor.authorLausch, Ekkehart
dc.contributor.authorVeltman, Joris A.
dc.contributor.authorRoeleveld, Nel
dc.contributor.authorSuperti-Furga, Andrea
dc.contributor.authorKutkowska-Kazmierczak, Anna
dc.contributor.authorKamsteeg, Erik-Jan
dc.date.accessioned2021-03-05T08:04:27Z
dc.date.available2021-03-05T08:04:27Z
dc.date.issued2013
dc.identifier.citationSchmidts M., Arts H. H. , Bongers E. M. H. F. , Yap Z., Oud M. M. , Antony D., Duijkers L., Emes R. D. , Stalker J., Yntema J. L. , et al., "Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement", JOURNAL OF MEDICAL GENETICS, cilt.50, ss.309-323, 2013
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_971138ab-f3b4-4170-b298-edfa97255fe5
dc.identifier.urihttp://hdl.handle.net/20.500.12627/101681
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2012-101284
dc.description.abstractBackground Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.titleExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentRadboud University Nijmegen , ,
dc.identifier.volume50
dc.identifier.issue5
dc.identifier.startpage309
dc.identifier.endpage323
dc.contributor.firstauthorID209112


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