Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Eitemau Tebyg

• Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
  gan: Tuz, Karina, et al.
  Cyhoeddwyd: (2014)
• Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
  gan: Bachmann-Gagescu, R, et al.
  Cyhoeddwyd: (2015)
• Mutations in CSPP1 Lead to Classical Joubert Syndrome
  gan: Akizu, Naiara, et al.
  Cyhoeddwyd: (2014)
• Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy
  gan: Lehman, A.M., et al.
  Cyhoeddwyd: (2010)
• KIAA0586 is mutated in Joubert syndrome
  gan: Bachmann-Gagescu, Ruxandra, et al.
  Cyhoeddwyd: (2015)