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名词信息
中 文 名:
先天性核性白内障
英 文 名:
congenital nuclear cataract
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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 nuclear cataract
相关文献:
A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.
Guo D, Zhang Q.
Am J Med Genet A. 2023 Sep;191(9):2398-2401. doi: 10.1002/ajmg.a.63355. Epub 2023 Jul 17.
PMID:37455568
Molecular genetics of congenital nuclear cataract.
Deng H, Yuan L.
Eur J Med Genet. 2014 Feb;57(2-3):113-22. doi: 10.1016/j.ejmg.2013.12.006. Epub 2013 Dec 30.
PMID:24384146
Genetics of Congenital Cataract.
Pichi F, Lembo A, Serafino M, Nucci P.
Dev Ophthalmol. 2016;57:1-14. doi: 10.1159/000442495. Epub 2016 Apr 1.
PMID:27043388
[Congenital cataract with embryonic nuclear opacity].
Rudolph CN, Boden KT, Szurman P, Wakili P.
Ophthalmologie. 2024 Nov;121(11):857. doi: 10.1007/s00347-024-02093-7. Epub 2024 Aug 6.
PMID:39105801
Deficiency of Jamc Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses.
Li J, Tan X, Sun Q, Li X, Chen R, Luo L.
Invest Ophthalmol Vis Sci. 2022 Sep 1;63(10):1. doi: 10.1167/iovs.63.10.1.
PMID:36048019
Pediatric Cataract.
Gupta P, Gurnani B, Patel BC.
2024 Jun 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:34283446
[Bilateral nuclear cataract].
Rouland JF, Cooren A, Coppin J.
J Fr Ophtalmol. 2018 Apr;41(4):391-395. doi: 10.1016/j.jfo.2017.08.012. Epub 2018 Apr 24.
PMID:29699803
Congenital cataract - clinical and morphological aspects.
Tătaru CI, Tătaru CP, Costache A, Boruga O, Zemba M, Ciuluvică RC, Sima G.
Rom J Morphol Embryol. 2020;61(1):105-112. doi: 10.47162/RJME.61.1.11.
PMID:32747900
Paediatric cataract surgery.
Zetterström C, Kugelberg M.
Acta Ophthalmol Scand. 2007 Nov;85(7):698-710. doi: 10.1111/j.1600-0420.2007.01007.x.
PMID:17944624
A novel frameshift variant in BCOR causes congenital nuclear cataract.
Berry V, Ponnekanti MB, Pontikos N, Quinlan RA, Michaelides M.
Ophthalmic Genet. 2024 Dec;45(6):591-595. doi: 10.1080/13816810.2024.2373248. Epub 2024 Jul 3.
PMID:38957147
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