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- Chapter 1 Towards the diagnosis of a ciliopathy
- Chapter 2 Alström syndrome
- Chapter 3 Jeune syndrome and the ciliary chondrodysplasias
- Chapter 4 Joubert syndrome and Joubert syndrome-related disorders
- Chapter 5 Bardet–Biedl syndrome
- Chapter 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathies
- Chapter 7 Meckel–Gruber syndrome
- Chapter 8 Nephronophthisis
- Chapter 9 Oral–facial–digital type I syndrome
- Chapter 10 Autosomal dominant polycystic kidney disease
- Chapter 11 Autosomal recessive polycystic kidney disease
- Chapter 12 Primary ciliary dyskinesia
- Chapter 13 Usher syndrome
- Chapter 14 Syndromes not yet proven to be ciliopathies