科茨综合征伴其他异常 - Suppr

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Coats Plus Syndrome.

作者信息

Collin Adrien, Lecler Augustin

机构信息

Department of Radiology, Fondation Ophtalmologique Rothschild, Paris, France.

出版信息

JAMA Neurol. 2019 Apr 1;76(4):501. doi: 10.1001/jamaneurol.2018.4610.

DOI:10.1001/jamaneurol.2018.4610

PMID:30688973

Abstract

摘要

相似文献

Coats Plus Syndrome.科茨综合征伴其他异常

JAMA Neurol. 2019 Apr 1;76(4):501. doi: 10.1001/jamaneurol.2018.4610.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.伴有钙化和囊肿的脑视网膜微血管病变（CRMCC）或“科茨综合征附加症”：当周边视网膜血管系统提示神经系统疾病时。

J AAPOS. 2017 Oct;21(5):420-422. doi: 10.1016/j.jaapos.2017.04.015. Epub 2017 Aug 31.

[Infant with intracranial calcifications and retinopathy].[患有颅内钙化和视网膜病变的婴儿]

Rev Neurol. 2019 Oct 1;69(7):289-292. doi: 10.33588/rn.6907.2019166.

Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.在中国一个 Coats 综合征家系中发现 CTC1 基因的新型双等位错义突变。

J Neurol Sci. 2017 Nov 15;382:142-145. doi: 10.1016/j.jns.2017.09.041. Epub 2017 Sep 30.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.新型复合杂合性 STN1 变异与 Coats 综合征 Plus 型相关。

Mol Genet Genomic Med. 2021 Dec;9(12):e1708. doi: 10.1002/mgg3.1708. Epub 2021 Jun 10.

Leukoencephalopathy, cerebral calcifications and cysts: a family study.白质脑病、脑钙化和囊肿：一项家族研究。

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Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.

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[Coats Plus: Coats disease with systemic features].

J Fr Ophtalmol. 2016 Sep;39(7):e167-70. doi: 10.1016/j.jfo.2015.06.015. Epub 2016 Aug 18.

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.由于CTC1基因隐性突变导致的伴有钙化和囊肿的脑视网膜微血管病变。

Rev Neurol (Paris). 2015 May;171(5):445-9. doi: 10.1016/j.neurol.2015.01.566. Epub 2015 Apr 2.

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.对一个印度家庭进行的全外显子组测序将科茨加综合征和右位心与一个纯合的新型CTC1和一个罕见的HES7变异联系起来。

BMC Med Genet. 2015 Feb 10;16:5. doi: 10.1186/s12881-015-0151-8.

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Improvement in Cystoid Macular Edema Secondary to Systemic Bevacizumab in a Patient With Coats Plus Syndrome.一名患有科茨加综合征（Coats Plus Syndrome）的患者在接受全身贝伐单抗治疗后黄斑囊样水肿得到改善。

J Vitreoretin Dis. 2024 Sep 14:24741264241276601. doi: 10.1177/24741264241276601.

Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations.眼部先天性畸形：图文综述及临床与放射学相关性

J Ophthalmol. 2024 Jan 30;2024:5993083. doi: 10.1155/2024/5993083. eCollection 2024.

Coats Plus Syndrome Presenting in an Adult.成人科茨加综合征

J Vitreoretin Dis. 2023 May 8;7(6):562-564. doi: 10.1177/24741264231171465. eCollection 2023 Nov-Dec.

Coats plus syndrome with new observation of drusenoid retinal pigment epithelial detachments in a teenager.科茨加综合征，伴有一名青少年患者出现玻璃膜疣样视网膜色素上皮脱离的新观察结果。

Am J Ophthalmol Case Rep. 2022 Sep 21;28:101713. doi: 10.1016/j.ajoc.2022.101713. eCollection 2022 Dec.

Coats-plus syndrome: when imaging leads to genetic diagnosis.科茨加综合征：影像学检查如何助力基因诊断

BMJ Case Rep. 2022 May 17;15(5):e249702. doi: 10.1136/bcr-2022-249702.

Commentary: Coats disease: Our experience in India.评论：科茨病：我们在印度的经验。

Indian J Ophthalmol. 2019 Jun;67(6):783-784. doi: 10.4103/ijo.IJO_823_19.

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