Citation：
要青清, 程湧, 令狐丹丹, 朱雪梅, 邓洵, 梁建宏. 13-染色体缺失综合征合并视网膜母细胞瘤一例. Chinese Journal of Ocular Fundus Diseases, 2020, 36(10): 804-805. doi: 10.3760/cma.j.cn511434-20190711-00221
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- 1. Kirchhoff M, Bisgaard AM, Stoeva R, et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter[J]. Am J Med Genet A, 2009, 149A(5): 894-905. DOI: 10.1002/ajmg.a.32814.
- 2. Lévy J, Haye D, Marziliano N, et al. EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder[J]. Clin Genet, 2018, 93(6): 1141-1147. DOI: 10.1111/cge.13234.
- 3. Jones K, Minassian BA. Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma[J]. Pediatr Neurol, 2014, 50(5): 522-524. DOI: 10.1016/j.pediatrneurol.2013.11.018.
- 4. Abramson DH, Shield CL, Munier FL, et al. Treatment of retinoblastoma in 2015: agreement and disagreement[J]. JAMA Ophthalmol, 2015, 133(11): 1341-1347. DOI: 10.1001/Jamaophthalmol.2015.3108.
