Coats-plus syndrome: when imaging leads to genetic diagnosis.
作者信息
Maia Carolina, Batista Mariana, Palavra Filipe, Pinto Joana
机构信息
Medical Image Department, Neuroradiology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal
Dermatology and Venereology Department, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal.
出版信息
BMJ Case Rep. 2022 May 17;15(5):e249702. doi: 10.1136/bcr-2022-249702.
Abstract
摘要
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本文引用的文献
1
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.
2
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.
3
Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression.
J Comput Assist Tomogr. 2009 Jul-Aug;33(4):571-2. doi: 10.1097/RCT.0b013e31818c0957.
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