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- Chapter 1 Towards the diagnosis of a ciliopathyPhilip L. Beales and Thomas D. Kenny
- Chapter 2 Alström syndromeRichard Paisey
- Chapter 3 Jeune syndrome and the ciliary chondrodysplasiasMiriam Schmidts
- Chapter 4 Joubert syndrome and Joubert syndrome-related disordersVictoria Harrison and Andrea H. Németh
- Chapter 5 Bardet–Biedl syndromePhilip L. Beales and Elizabeth Forsythe
- Chapter 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathiesThomas D. Kenny, Philip L. Beales and Ronald Roepman
- Chapter 7 Meckel–Gruber syndromeGabrielle Wheway and Colin A. Johnson
- Chapter 8 NephronophthisisShalabh Srivastava and John A. Sayer
- Chapter 9 Oral–facial–digital type I syndromeBrunella Franco
- Chapter 10 Autosomal dominant polycystic kidney diseaseRichard Sandford
- Chapter 11 Autosomal recessive polycystic kidney diseaseCarsten Bergmann
- Chapter 12 Primary ciliary dyskinesiaClaire Hogg
- Chapter 13 Usher syndromeMaria Bitner-Glindzicz and Zubin Saihan
- Chapter 14 Syndromes not yet proven to be ciliopathiesKate Baker