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1ÏË벡µÄÕï¶Ï1 Towards the diagnosis of a ciliopathyPhilip L.Beales,Thomas D.Kenmy 2°¢¶û˹ÌØÀ×Ä·×ÛºÏÕ÷8 Alstr?m syndrome Richard Paisey 3ÈÈÄÉ×ÛºÏÕ÷¼°ÏËëÀàÈí¹Ç·¢Óý²»Á¼28 Jeune syndrome and the ciliary chondrodysplasias Miriam Schmidts 4Öì²®ÌØ×ÛºÏÕ÷ºÍÖì²®ÌØ×ÛºÏÕ÷Ïà¹Ø¼²²¡55 Joubert syndrome and Joubert syndrome-related disorders Victoria Harrison,Andrea H.Nemeth 5°Í¶ûµÃ-±ðµÂ¶û×ÛºÏÕ÷79 Bardet-Biedl syndromePhilip L.Beales,Elizabeth Forsythe 6À³²®ÏÈÌìÐÔºÚ²‰ºÍÆäËû·Ç×ÛºÏÕ÷ÐÔÊÓÍøĤÏË벡93 Leber congenital amaurosis and other non-syndromic retinal ciliopathiesThomas D.Kenmy,PhilipL.Beales,Ronald Roepman 7÷¿Ë¶û-¸ñ³²®×ÛºÏÕ÷114 Meckel-Gruber syndromeGabrielle Wheway,Colin A.Jolnson 8ÉöÏûºÄ²¡129NephronophthisisShalabh Srivastava,Jolm A.Sayer 9¿Ú-Ãæ-Ö¸×ÛºÏÕ÷IÐÍ139 Oral-facial-digital type I syndromeBrumela Franco 10³£È¾É«ÌåÏÔÐÔÒÅ´«ÐÔ¶àÄÒÐÔÉö²¡149 Autosomal dominant polycystic kidney diseaseRichard Sandford 11³£È¾É«ÌåÒþÐÔÒÅ´«ÐÔ¶àÄÒÐÔÉö²¡166 Autosomal recessive polycystic kidney diseaseCarsten Bergmann 12Ô­·¢ÐÔÏËëÔ˶¯ÕÏ°­186Primary ciliary dyskinesiaClaire Hogg 13¶òÉá×ÛºÏÕ÷203Usher syndrome Maria Bitner-Glindzicz,Zubin Saihan14ÉÐδ±»Ö¤ÊµÎªÏË벡µÄ×ÛºÏÕ÷224 Syndromes not yet proven to be ciliopathiesKate Baker