中华眼底病杂志

中华眼底病杂志

Stickler综合征一例

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关键词: 遗传性疾病,先天性; 近视,退行性/先天性; Stickler综合征/诊断; 病例报告

引用本文: 王莎莎, 刘维锋. Stickler综合征一例. 中华眼底病杂志, 2018, 34(6): 598-599. doi: 10.3760/cma.j.issn.1005-1015.2018.06.016 复制

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1. Zlotogora J, Sagi M, Schuper A, et al. Variability of Stickler syndrome[J]. Am J Med Genet, 1992, 42(3): 337-339. DOI: 10.1002/ajmg.1320420316.
2. 郭立斌, 叶俊杰. Stickler综合征[J]. 国外医学: 眼科学分册, 2004, 28(2): 73-76.Guo LB, Ye JJ. Stickler syndrome[J]. Section Ophthalmol Foreign Med Sci, 2004, 28(2): 73-76.
3. Richards AJ, Scott JD, Snead MP. Molecular genetics of rhgamatogenous retinal detachment[J]. Eye, 2002, 16(1): 388-392.
4. Shanske AL, Bogdanow A, Shprintzen RJ, et a1. The Marshall syndrome:report of a new family and review of the literature[J]. Am J Med Crenet, 1997, 70(1): 52-57.
5. Vintiner GM, Temple JK, Middleion-Price HR, et al. Genetic and clinical heterogencity of Stickler syndrome[J]. Am J Med Genet, 1991, 41(1): 44-48.
6. Wilkin DJ, Artz AS, South S, et al. Small deletions in the type Ⅱ collagen triple helix produce Kniest dysplasia[J]. Am J Med Get, 1999, 85(2): 105-112.
7. Annunen S, Korkko J, Czarny M, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes[J]. Am J Hum Genet, 1999, 65(4): 974-983. DOI: 10.1086/302585.
8. 李凤荣, 周琦, 李惠, 等. I型Stickler综合征家系临床和基因突变研究[J]. 中华实验眼科杂志, 2012, 30(10): 941-944. DOI: 10.3760/cma.j.issn.2095-0160.2012.10.20.Li FR, Zhou Q, Li H, et al. Clinical and genetic research in a Chinese family with Stickler syndrome type 1[J]. Chin J Exp Ophthalmol, 2012, 30(10): 941-944. DOI: 10.3760/cma.j.issn.2095-0160.2012.10.20.