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congenital perinuclear cataract 相关文献:
Congenital lamellar cataract.
Gerth-Kahlert C, Michels R, Funk J, Gautschy U.
JAMA Ophthalmol. 2014 Sep;132(9):1122. doi: 10.1001/jamaophthalmol.2013.5851.
PMID:25032728
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 Lamellar and Sutural Cataract in a Patient With Type 2 Diabetes.
Parikh RN, Kloek CE.
JAMA Ophthalmol. 2022 Jul 1;140(7):e222158. doi: 10.1001/jamaophthalmol.2022.2158. Epub 2022 Jul 21.
PMID:35861733
Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.
Liu Q, Zhu S.
Biosci Rep. 2020 Feb 28;40(2):BSR20191349. doi: 10.1042/BSR20191349.
PMID:32010934
Sutural cataract.
Jinagal J, Gupta G, Thattaruthody F.
Indian J Ophthalmol. 2018 Jun;66(6):853. doi: 10.4103/ijo.IJO_280_18.
PMID:29786001
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 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.
Kong XD, Liu N, Shi HR, Dong JM, Zhao ZH, Liu J, Li-Ling J, Yang YX.
Genet Mol Res. 2015 Jan 23;14(1):426-32. doi: 10.4238/2015.January.23.16.
PMID:25729975
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
Hereditary cataract in the Bengal cat in Poland.
Kucharczyk N, Cislo-Pakuluk A, Stefanowicz P, Bedford P.
BMC Vet Res. 2020 Aug 14;16(1):293. doi: 10.1186/s12917-020-02517-x.
PMID:32799858
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M.
Eye (Lond). 2022 Aug;36(8):1694-1701. doi: 10.1038/s41433-021-01711-x. Epub 2021 Aug 3.
PMID:34345029
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