| 1. |
Alexander P, Fincham GS, Brown S, et al. Cambridge prophylactic protocol, retinal detachment, and Stickler syndrome[J]. N Engl J Med, 2023, 388(14): 1337-1339. DOI: 10.1056/NEJMc2211320.
|
| 2. |
Jacobson A, Besirli CG, Bohnsack BL, et al. Characteristics of a three-generation family with Stickler syndrome type I carrying two different COL2A1 mutations[J]. Genes (Basel), 2023, 14(4): 847. DOI: 10.3390/genes14040847.
|
| 3. |
Soh Z, Richards AJ, McNinch A, et al. Dominant Stickler syndrome[J]. Genes (Basel), 2022, 13(6): 1089. DOI: 10.3390/genes13061089.
|
| 4. |
Sergouniotis PI, Fincham GS, McNinch AM, et al. Ophthalmic and molecular genetic findings in Kniest dysplasia[J]. Eye (Lond), 2015, 29(4): 475-482. DOI: 10.1038/eye.2014.334.
|
| 5. |
Kannu P, Bateman J, Savarirayan R. Clinical phenotypes associated with type II collagen mutations[J/OL]. J Paediatr Child Health, 2012, 48(2): E38-43[2011-02-18]. https://pubmed.ncbi.nlm.nih.gov/21332586/. DOI: 10.1111/j.1440-1754.2010.01979.x.
|
| 6. |
Richards AJ, Morgan J, Bearcroft PW, et al. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule[J]. J Med Genet, 2002, 39(9): 661-665. DOI: 10.1136/jmg.39.9.661.
|
| 7. |
Liu X, Dong H, Gong Y, et al. , A novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I[J]. J Cell Mol Med, 2022, 26(5): 1530-1539. DOI: 10.1111/jcmm.17187.
|
| 8. |
Choi SI, Woo SJ, Oh BL, et al. Genetic characteristics and phenotype of Korean patients with Stickler syndrome: a Korean multicenter analysis report No. 1[J]. Genes (Basel), 2021, 12(10): 1578. DOI: 10.3390/genes12101578.
|
| 9. |
Yoon JM, Jang MA, Ki CS, et al. Two likely pathogenic variants of COL2A1 in unrelated Korean patients with ocular-only variants of Stickler syndrome: the first molecular diagnosis in Korea[J]. Ann Lab Med, 2016, 36(2): 166-169. DOI: 10.3343/alm.2016.36.2.166.
|
1/5
WeChat