纤毛病 基础与临床

1纤毛病的诊断1 Towards the diagnosis of a ciliopathyPhilip L.Beales,Thomas D.Kenmy 2阿尔斯特雷姆综合征8 Alstr?m syndrome Richard Paisey 3热纳综合征及纤毛类软骨发育不良28 Jeune syndrome and the ciliary chondrodysplasias Miriam Schmidts 4朱伯特综合征和朱伯特综合征相关疾病55 Joubert syndrome and Joubert syndrome-related disorders Victoria Harrison,Andrea H.Nemeth 5巴尔得-别德尔综合征79 Bardet-Biedl syndromePhilip L.Beales,Elizabeth Forsythe 6莱伯先天性黑矇和其他非综合征性视网膜纤毛病93 Leber congenital amaurosis and other non-syndromic retinal ciliopathiesThomas D.Kenmy,PhilipL.Beales,Ronald Roepman 7梅克尔-格鲁伯综合征114 Meckel-Gruber syndromeGabrielle Wheway,Colin A.Jolnson 8肾消耗病129NephronophthisisShalabh Srivastava,Jolm A.Sayer 9口-面-指综合征I型139 Oral-facial-digital type I syndromeBrumela Franco 10常染色体显性遗传性多囊性肾病149 Autosomal dominant polycystic kidney diseaseRichard Sandford 11常染色体隐性遗传性多囊性肾病166 Autosomal recessive polycystic kidney diseaseCarsten Bergmann 12原发性纤毛运动障碍186Primary ciliary dyskinesiaClaire Hogg 13厄舍综合征203Usher syndrome Maria Bitner-Glindzicz,Zubin Saihan14尚未被证实为纤毛病的综合征224 Syndromes not yet proven to be ciliopathiesKate Baker