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- [2] Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B Pediatric Nephrology, 1998, 12 : 16 - 19
- [4] Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 131A (01): : 71 - 76
- [5] MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome JOURNAL OF PEDIATRICS, 2009, 155 (03): : 386 - 392
- [6] Late-onset hydrocephalus in a child with Joubert syndrome: a case report Child's Nervous System, 2018, 34 : 1423 - 1425