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Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

作者信息

Ungaro Carmine, Mazzei Rosalucia, Sprovieri Teresa

机构信息

Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Mangone, CS, Italy.

Institute for Agricultural and Forest Systems in the Mediterranean, National Research Council, Rende, CS, Italy.

出版信息

Neurol Sci. 2019 Jan;40(1):207-208. doi: 10.1007/s10072-018-3567-z. Epub 2018 Sep 14.

DOI:10.1007/s10072-018-3567-z
PMID:30218396
Abstract
摘要

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本文引用的文献

1
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.伴有进行性脊柱侧凸的水平凝视麻痹：一例散发复合杂合病例中的两个新型ROBO3突变
J Neuroophthalmol. 2018 Mar;38(1):131-132. doi: 10.1097/WNO.0000000000000603.
2
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.非共同性斜视的遗传基础：疾病遗传基础的现有知识整合
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):427-37. doi: 10.3109/08820538.2013.825288.
3
Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.
六例突尼斯水平凝视麻痹伴进行性脊柱侧弯家族的临床与遗传异质性：13例回顾性研究
Front Pediatr. 2020 Apr 16;8:172. doi: 10.3389/fped.2020.00172. eCollection 2020.
由于ROBO3基因的有害突变导致的水平凝视麻痹和进行性脊柱侧弯。
Ophthalmic Genet. 2011 Nov;32(4):231-6. doi: 10.3109/13816810.2011.580445. Epub 2011 May 19.
4
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.全基因组关联研究提示青少年特发性脊柱侧凸的候选易感基因。
Hum Mol Genet. 2011 Apr 1;20(7):1456-66. doi: 10.1093/hmg/ddq571. Epub 2011 Jan 7.
5
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.人类ROBO基因的突变会破坏后脑轴突通路的交叉和形态发生。
Science. 2004 Jun 4;304(5676):1509-13. doi: 10.1126/science.1096437. Epub 2004 Apr 22.
6
Intraoperative neurophysiologic discovery of uncrossed sensory and motor pathways in a patient with horizontal gaze palsy and scoliosis.术中神经生理学发现一名患有水平凝视麻痹和脊柱侧弯患者存在未交叉的感觉和运动通路。
Clin Neurophysiol. 2004 Mar;115(3):576-82. doi: 10.1016/j.clinph.2003.10.029.