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名词信息
中 文 名:
先天性珊瑚状白内障
英 文 名:
congenital coralliform cataract
中文又称:
中文曾称:
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眼科
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疾病诊断名词
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Pubmed相关的文献
congenital coralliform cataract
相关文献:
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.
Wang KJ, Wang JX, Wang JD, Li M, Zhang JS, Mao YY, Wan XH.
Orphanet J Rare Dis. 2023 Jul 21;18(1):200. doi: 10.1186/s13023-023-02816-0.
PMID:37480084
A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees.
Cai SP, Lu L, Wang XZ, Wang Y, He F, Fan N, Weng JN, Zhang JH, Liu XY.
Int J Ophthalmol. 2021 Jun 18;14(6):800-804. doi: 10.18240/ijo.2021.06.03. eCollection 2021.
PMID:34150533
[Congenital coralliform cataract].
Drincic V.
Ophtalmologie. 1989 Jan-Mar;3(1):91-2.
PMID:2641082
Microscopic Findings in a Case of Coralliform Cataract, with Remarks on Congenital Cataracts in General.
Verhoeff FH.
Trans Am Ophthalmol Soc. 1918;16:64-74.
PMID:16692457
Familial congenital coralliform cataract.
Polse KA, Harris MG, Rosen NJ.
Am J Optom Physiol Opt. 1974 Oct;51(10):770-3. doi: 10.1097/00006324-197410000-00007.
PMID:4429121
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
Zhang LY, Gong B, Tong JP, Fan DS, Chiang SW, Lou D, Lam DS, Yam GH, Pang CP.
Mol Vis. 2009 Aug 6;15:1521-9.
PMID:19668596
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.
Yang G, Xiong C, Li S, Wang Y, Zhao J.
Mol Vis. 2011 Apr 28;17:1085-9.
PMID:21552497
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
Zhang X, Wang L, Wang J, Dong B, Li Y.
Mol Vis. 2012;18:203-10. Epub 2012 Jan 25.
PMID:22312188
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V, Singh D.
Mol Cell Biochem. 2012 Sep;368(1-2):167-72. doi: 10.1007/s11010-012-1355-2. Epub 2012 Jun 6.
PMID:22669729
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
Li F, Wang S, Gao C, Liu S, Zhao B, Zhang M, Huang S, Zhu S, Ma X.
Mol Vis. 2008 Mar 4;14:378-86.
PMID:18334953
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