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


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, sa.8, ss.514-522, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 52 Sayı: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1136/jmedgenet-2015-103087
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.514-522
  • İstanbul Üniversitesi Adresli: Evet

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.