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congenital nuclear cataract 相关文献:
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
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
[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
Pediatric Cataract.
Ray A, Gurnani B.
2025 Aug 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:34283446
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
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
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R, Huang D, Ji J, Liu W.
BMC Ophthalmol. 2022 Apr 15;22(1):172. doi: 10.1186/s12886-022-02386-y.
PMID:35428228
[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
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
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.
Yonova-Doing E, Zhao W, Igo RP Jr, Wang C, Sundaresan P, Lee KE, Jun GR, Alves AC, Chai X, Chan ASY, Lee MC, Fong A, Tan AG, Khor CC, Chew EY, Hysi PG, Fan Q, Chua J, Chung J, Liao J, Colijn JM, Burdon KP, Fritsche LG, Swift MK, Hilmy MH, Chee ML, Tedja M, Bonnemaijer PWM, Gupta P, Tan QS, Li Z, Vithana EN, Ravindran RD, Chee SP, Shi Y, Liu W, Su X, Sim X, Shen Y, Wang YX, Li H, Tham YC, Teo YY, Aung T, Small KS, Mitchell P, Jonas JB, Wong TY, Fletcher AE, Klaver CCW, Klein BEK, Wang JJ, Iyengar SK, Hammond CJ, Cheng CY.
Commun Biol. 2020 Dec 11;3(1):755. doi: 10.1038/s42003-020-01421-2.
PMID:33311586
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