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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

dc.contributor.authorPhelps, I. G.
dc.contributor.authorRAMADEVI, Radha A.
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorALSWAID, A.
dc.contributor.authorOzyurek, H.
dc.contributor.authorHaliloglu, G.
dc.contributor.authorTopcu, M.
dc.contributor.authorChance, P.
dc.contributor.authorPARISI, M. A.
dc.contributor.authorGlass, I. A.
dc.contributor.authorBachmann-Gagescu, R.
dc.contributor.authorDempsey, J. C.
dc.contributor.authorO'Day, D.
dc.contributor.authorde Lacy, N.
dc.contributor.authorBoyle, E. A.
dc.contributor.authorADKINS, J.
dc.contributor.authorGORDEN, N.
dc.contributor.authorIsabella, C. R.
dc.contributor.authorISHAK, G. E.
dc.contributor.authorRue, T. C.
dc.contributor.authorKNUTZEN, D. M.
dc.contributor.authorO'ROAK, B. J.
dc.contributor.authorShendure, J.
dc.contributor.authorDoherty, D.
dc.contributor.authorLINGAPPA, L.
dc.contributor.authorLourenco, C.
dc.contributor.authorMARTORELL, L.
dc.contributor.authorGARCIA-CAZORLA, A.
dc.date.accessioned2021-03-05T12:05:28Z
dc.date.available2021-03-05T12:05:28Z
dc.date.issued2015
dc.identifier.citationBachmann-Gagescu R., Dempsey J. C. , Phelps I. G. , O'ROAK B. J. , KNUTZEN D. M. , Rue T. C. , ISHAK G. E. , Isabella C. R. , GORDEN N., ADKINS J., et al., "Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity", JOURNAL OF MEDICAL GENETICS, cilt.52, ss.514-522, 2015
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_ab5b740e-e094-40af-8f00-7de0f410f4f4
dc.identifier.urihttp://hdl.handle.net/20.500.12627/114414
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2015-103087
dc.description.abstractBackground Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and gene-phenotype associations in JS.
dc.language.isoeng
dc.subjectGENETİK VE HAYAT
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectTıbbi Genetik
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.titleJoubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentUniversity Of Washington , ,
dc.identifier.volume52
dc.identifier.issue8
dc.identifier.startpage514
dc.identifier.endpage522
dc.contributor.firstauthorID9167


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