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


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Bachmann-Gagescu R., Dempsey J. C. , Phelps I. G. , O'ROAK B. J. , KNUTZEN D. M. , Rue T. C. , ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.52, ss.514-522, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 52 Konu: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1136/jmedgenet-2015-103087
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.514-522

Özet

Background 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.