| 1 |
李胜利, 罗国阳. 胎儿畸形产前超声诊断学 [M]. 2版. 北京: 科学出版社, 2017: 25-750.
|
| 2 |
Reis LM, Semina EV. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes [J]. Hum Genet, 2019, 138(8-9): 847-863.
|
| 3 |
Shiels A, Hejtmancik JF. Biology of inherited cataracts and opportunities for treatment [J]. Annu Rev Vis Sci, 2019, 5: 123-149.
|
| 4 |
海玥, 兰长骏, 廖萱. 先天性白内障相关晶状体蛋白基因突变的研究进展 [J]. 国际眼科杂志, 2021, 21(6): 1017-1020.
|
| 5 |
Berry V, Georgiou M, Fujinami K, et al. Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches [J]. Br J Ophthalmol, 2020, 104(10): 1331-1337.
|
| 6 |
Li J, Chen X, Yan Y, et al. Molecular genetics of congenital cataracts [J]. Exp Eye Res, 2020, 191: 107872.
|
| 7 |
Dudakova L, Stranecky V, Ulmanova O, et al. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts [J]. Mol Biol Rep, 2017, 44(6): 435-440.
|
| 8 |
Zhu S, Xi XB, Duan TL, et al. The cataract-causing mutation G75V promotes γS-crystallin aggregation by modifying and destabilizing the native structure [J]. Int J Biol Macromol, 2018, 117: 807-814.
|
| 9 |
Berry V, Ionides A, Pontikos N, et al. The genetic landscape of crystallins in congenital cataract [J]. Orphanet J Rare Dis, 2020, 15(1): 333.
|
| 10 |
郭家菊, 秦越, 李胜利. 胎儿先天性白内障产前超声诊断及研究分析 [J/OL]. 中华医学超声杂志(电子版), 2021, 18(3): 285-289.
|
| 11 |
Ashwal E, Achiron A, Gilboa Y, et al. Prenatal ultrasonographic diagnosis of cataract: in utero manifestations of cryptic disease [J]. Ultraschall Med, 2018, 39(2): 213-218.
|
| 12 |
Serafino M, Trivedi RH, Levin AV, et al. Use of the Delphi process in paediatric cataract management [J]. Br J Ophthalmol, 2016, 100(5): 611-615.
|