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关键词:
- Schimke免疫-骨发育不良 /
- SMARCAL1基因 /
- 肾病综合征
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图 4 Schimke免疫-骨发育不良患儿及其父母的SMARCALI基因测序图
注：此突变为点突变：c.1334+1(IVS7)G>A；A为患儿，B为患儿母亲，C为患儿父亲。
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[1] BAKR A, EID R, SARHAN A, et al. Schimke immune-osseous dysplasia: A case report [J]. Saudi J Kidney Dis Transpl, 2015, 26(5): 987-991. doi: 10.4103/1319-2442.164585 [2] PEDROSA A K, TORRES L F, SILVA A C, et al. Rare case of nephrotic syndrome: Schimke syndrome[J]. J Bras Nefrol, 2016, 38(3): 370-373. http://www.scielo.br/pdf/jbn/v38n3/0101-2800-jbn-38-03-0370.pdf [3] LIPSKA-ZIETKIEWICZ B S, GELLERMANN J, BOYER O, et al. Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia[J]. PLoS One, 2017, 12(8): e0180926. doi: 10.1371/journal.pone.0180926 [4] 路胜男, 杨雪霞, 冯占辉. 肾病综合征并颅内静脉窦血栓形成1例[J]. 中华实用诊断与治疗杂志, 2017, 31(2): 179-181. https://www.cnki.com.cn/Article/CJFDTOTAL-HNZD201702024.htm [5] BABAEI AH, INALOO S, BASIRATNIA M, et al. Early onset cerebral infarction in schimke immuno-osseous dysplasia[J]. Iran J Child Neurol, 2018, 12(3): 126-132. http://journals.sbmu.ac.ir/ijcn/article/download/16085/pdf133-138 [6] BELEFORD D T, DIAB M, QUBTY W F, et al. Schimke immunoosseous dysplasia and management considerations for vascular risks[J]. Am J Med Genet A, 2019, 179(7): 1246-1252. http://www.onacademic.com/detail/journal_1000042267928799_48a2.html [7] SEVERINO M, GIACOMINI T, VERRINA E, et al. Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immunoosseous dysplasia[J]. Neuroradiology, 2018, 60(9): 885-888. doi: 10.1007/s00234-018-2052-y [8] SAMANTA D, RAMAKRISHNAIAH R. Diffuse carotid arteriosclerosis and stroke in a patient with schimke immuno-osseous dysplasia[J]. Pediatr Neurol, 2017, 71(1): 82-83. http://www.researchgate.net/profile/Debopam_Samanta/publication/315595184_Diffuse_Carotid_Arteriosclerosis_and_Stroke_in_a_Patient_With_Schimke_Immuno-osseous_Dysplasia/links/5ace9832aca2723a33442e89/Diffuse-Carotid-Arteriosclerosis-and-Stroke-in-a-Patient-With-Schimke-Immuno-osseous-Dysplasia.pdf [9] BELEFORD D T, DIAB M, QUBTY W F, et al. Schimke immunoosseous dysplasia and management considerations for vascular risks[J]. Am J Med Genet A, 2019, 179(7): 1246-1252. http://www.onacademic.com/detail/journal_1000042267928799_48a2.html [10] PRATO G, DE GRANDIS E D, MANCARDI M M, et al. Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern[J]. Brain Dev, 2020, 42(5): 408-413. doi: 10.1016/j.braindev.2020.01.008 [11] BABAEI A H, INALOO S, BASIRATNIA M. schimke immuno-osseous dysplasia: a case report[J]. Indian J Nephrol, 2019, 29(4): 291-294. doi: 10.4103/ijn.IJN_95_18 [12] SULLIVAN K E O, GRIFFIN A P, CASSERLY I P. Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis[J]. Cardio Young, 2018, 28(7): 974-977. doi: 10.1017/S1047951118000410 [13] COLLINS M K, PETERS K, ENGLISHI J C. Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia[J]. J Cutan Pathol, 2018, 45(6): 465-467. doi: 10.1111/cup.13139 [14] 刘成荫, 梁丽俊. Schimke免疫-骨发育不良1例[J]. 宁夏医科大学学报, 2019, 41(11): 1186-1188. https://www.cnki.com.cn/Article/CJFDTOTAL-XNXY201911030.htm [15] 刘子勤, 宋福英, 刘颖等. Schimke免疫-骨发育不良一例并文献复习[J]. 中华内分泌代谢杂志, 2017, 33(2): 111-115. doi: 10.3760/cma.j.issn.1000-6699.2017.02.004 -
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