Congenital iris ectropion as an indicator of variant aniridia.
作者信息
Willcock C, Grigg J, Wilson M, Tam P, Billson F, Jamieson R
出版信息
Br J Ophthalmol. 2006 May;90(5):658-569. doi: 10.1136/bjo.2005.089698.
Abstract
摘要
相似文献
1
Congenital iris ectropion as an indicator of variant aniridia.先天性虹膜外翻作为变异型无虹膜的一个指标。
Br J Ophthalmol. 2006 May;90(5):658-569. doi: 10.1136/bjo.2005.089698.
2
Aniridia (PAX6(+/-)).无虹膜（PAX6基因杂合突变）
J Pediatr Ophthalmol Strabismus. 2005 Mar-Apr;42(2):128. doi: 10.3928/01913913-20050301-15.
3
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.一个携带新型PAX6突变的家族中的小眼症、迟发性角膜炎和虹膜缺损/无虹膜症
Ophthalmic Genet. 2012 Jun;33(2):119-21. doi: 10.3109/13816810.2011.642452. Epub 2011 Dec 15.
4
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?PAX6 突变与上睑下垂、白内障、虹膜发育不良、角膜混浊和糖尿病相关：家族性无虹膜的新变体？
Clin Exp Ophthalmol. 2013 Dec;41(9):835-41. doi: 10.1111/ceo.12109. Epub 2013 May 3.
5
Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation.一名患有PAX6基因突变的土耳其男孩的无虹膜表型和近视
Genet Couns. 2011;22(2):155-9.
6
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.印度南部散发性和家族性无虹膜患者的突变分析及基因型-表型相关性研究
Mol Vis. 2015 Jan 27;21:88-97. eCollection 2015.
7
[Congenital aniridia or PAX6 syndrome].[先天性无虹膜或PAX6综合征]
Ophthalmologe. 2014 Dec;111(12):1144. doi: 10.1007/s00347-014-3058-4.
8
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.一个患有先天性无虹膜的巴西大家庭中的眼部和颅面表型
Clin Genet. 2015;87(1):68-73. doi: 10.1111/cge.12329. Epub 2014 Jan 16.
9
[Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia].[一个中国先天性无虹膜家系的PAX6基因突变分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):523-5. doi: 10.3760/cma.j.issn.1003-9406.2016.04.022.
10
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.非洲爪蟾pax6突变体影响眼睛发育和其他器官系统，并且与人类无虹膜患者具有表型相似性。
Dev Biol. 2015 Dec 15;408(2):328-44. doi: 10.1016/j.ydbio.2015.02.012. Epub 2015 Feb 25.
引用本文的文献
1
Ahmed glaucoma valve implantation for congenital ectropion uveae with glaucoma: A case report.Ahmed青光眼引流阀植入术治疗先天性葡萄膜外翻合并青光眼：一例报告
Medicine (Baltimore). 2025 Jan 17;104(3):e41239. doi: 10.1097/MD.0000000000041239.
2
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.新发现的变异型家族性无虹膜的配对盒6突变：伴有黄斑发育不全的先天性虹膜外翻。
Indian J Ophthalmol. 2017 Jan;65(1):55-56. doi: 10.4103/0301-4738.202305.
3
A young Botswana patient with congenital iris ectropion uvea.一名患有先天性虹膜外翻葡萄膜病的博茨瓦纳年轻患者。
Pan Afr Med J. 2016 Sep 29;25:42. doi: 10.11604/pamj.2016.25.42.10593. eCollection 2016.
4
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.散发性和家族性先天性白内障：突变谱及基于新一代测序的新诊断方法
Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14.
本文引用的文献
1
Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae.
Ophthalmic Res. 2004 Nov-Dec;36(6):349-52. doi: 10.1159/000081638.
2
Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene.PAX6基因1630A>T点突变患者的表型变异
Can J Ophthalmol. 2004 Apr;39(3):272-8. doi: 10.1016/s0008-4182(04)80125-x.
3
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.一个患有先天性眼球震颤并伴有变异型无虹膜的家族中的一种新型PAX6基因突变（P118R）。
Graefes Arch Clin Exp Ophthalmol. 2000 Jul;238(7):552-8. doi: 10.1007/s004170000124.
4
Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.眼部前段异常中PAX6基因C末端的错义突变。
Invest Ophthalmol Vis Sci. 1998 Apr;39(5):828-30.
5
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.常染色体显性遗传性角膜炎患者PAX6基因的突变
Am J Hum Genet. 1995 Sep;57(3):539-48.
6
Congenital ectropion uveae with glaucoma.先天性葡萄膜外翻伴青光眼。
Ophthalmology. 1984 Apr;91(4):326-31. doi: 10.1016/s0161-6420(84)34288-9.
7
Aniridia. A review.无虹膜。综述。
Surv Ophthalmol. 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x.
8
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency.
JAMA. 1986 Jun 20;255(23):3280-2.
9
Criteria to detect minimal expressivity within families with autosomal dominant aniridia.检测常染色体显性无虹膜家族中最小表现度的标准。
Am J Ophthalmol. 1992 Dec 15;114(6):700-7. doi: 10.1016/s0002-9394(14)74048-6.
Zotero 插件