Brain magnetic resonance imaging of Joubert syndrome: case presentation in a child.
作者信息
Zhu Fangmei, Wang Yujun, Yang Guangzhao, Deng Shuitang
机构信息
Department of Radiology, Tongde Hospital of Zhejiang Province, Hangzhou 310012, China.
出版信息
Quant Imaging Med Surg. 2019 Jun;9(6):1176-1178. doi: 10.21037/qims.2019.05.22.
Abstract
摘要
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Case Rep Pediatr. 2017;2017:8076494. doi: 10.1155/2017/8076494. Epub 2017 Aug 23.
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.在单一中心对100例Joubert综合征及相关疾病患者进行前瞻性评估的分子遗传学发现及临床相关性。
Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26.
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Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.乔布综合征：110例患者的神经影像学表现与认知功能及遗传病因的相关性
J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13.
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