Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing

Eitemau Tebyg

• Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity
  gan: R, Bachmann-Gagescu, et al.
  Cyhoeddwyd: (2015)
• KIAA0586 is mutated in Joubert syndrome
  gan: Bachmann-Gagescu, Ruxandra, et al.
  Cyhoeddwyd: (2015)
• Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicity
  gan: Phelps, Ian G., et al.
  Cyhoeddwyd: (2017)
• Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
  gan: Tuz, Karina, et al.
  Cyhoeddwyd: (2014)
• Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
  gan: Tuz, Karina, et al.
  Cyhoeddwyd: (2014)