伴有进行性脊柱侧凸的水平凝视麻痹中ROBO3基因的一种新突变。 - Suppr

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A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.

作者信息

Bozdoğan Sevcan Tuğ, Dinç Erdem, Sarı A Ayça, Özgür Anıl, Bişgin Atıl

机构信息

a Department of Medical Genetics , Mersin University , Mersin , Turkey.

b Department of Ophthalmology , Mersin University , Mersin , Turkey.

出版信息

Ophthalmic Genet. 2017 May-Jun;38(3):284-285. doi: 10.1080/13816810.2016.1188123. Epub 2016 Jun 7.

DOI:10.1080/13816810.2016.1188123

PMID:27267957

Abstract

摘要

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引用本文的文献

Mutation in 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.

Int J Environ Res Public Health. 2020 Jun 22;17(12):4467. doi: 10.3390/ijerph17124467.

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A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.

作者信息

Bozdoğan Sevcan Tuğ, Dinç Erdem, Sarı A Ayça, Özgür Anıl, Bişgin Atıl

机构信息

a Department of Medical Genetics , Mersin University , Mersin , Turkey.

b Department of Ophthalmology , Mersin University , Mersin , Turkey.

出版信息

Ophthalmic Genet. 2017 May-Jun;38(3):284-285. doi: 10.1080/13816810.2016.1188123. Epub 2016 Jun 7.

DOI:10.1080/13816810.2016.1188123

PMID:27267957

Abstract

摘要

相似文献

A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.

Ophthalmic Genet. 2017 May-Jun;38(3):284-285. doi: 10.1080/13816810.2016.1188123. Epub 2016 Jun 7.

Case 278: Mutation in Gene-Horizontal Gaze Palsy and Progressive Scoliosis.

Radiology. 2020 Jun;295(3):736-740. doi: 10.1148/radiol.2020181238.

Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.

J Pediatr Ophthalmol Strabismus. 2014 May 28;51 Online:e29-32. doi: 10.3928/01913913-20140521-01.

Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families.

Ophthalmic Genet. 2019 Apr;40(2):150-156. doi: 10.1080/13816810.2019.1592199. Epub 2019 Apr 15.

Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.

J Pediatr Ophthalmol Strabismus. 2014 May 28;51 Online:e29-32. doi: 10.3928/01913913-20140521-01.

Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.

J Mol Neurosci. 2021 Feb;71(2):293-301. doi: 10.1007/s12031-020-01650-4. Epub 2020 Jul 24.

Horizontal gaze palsy and progressive scoliosis: magnetic resonance imaging features and surgical treatment.

Einstein (Sao Paulo). 2017 Oct-Dec;15(4):512-513. doi: 10.1590/S1679-45082017AI3969. Epub 2017 Aug 17.

Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report.

BMC Neurol. 2015 Mar 10;15:25. doi: 10.1186/s12883-015-0286-4.

[Horizontal gaze palsy with progressive scoliosis].

Klin Monbl Augenheilkd. 2015 Mar;232(3):281-2. doi: 10.1055/s-0034-1396178. Epub 2015 Mar 24.

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.

Ophthalmic Genet. 2011 Nov;32(4):231-6. doi: 10.3109/13816810.2011.580445. Epub 2011 May 19.

引用本文的文献

Mutation in 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.

Int J Environ Res Public Health. 2020 Jun 22;17(12):4467. doi: 10.3390/ijerph17124467.

Horizontal Gaze Palsy with Progressive Scoliosis: A Case Report and Literature Review.

Neuroophthalmology. 2019 Jan 31;43(5):334-336. doi: 10.1080/01658107.2018.1520901. eCollection 2019 Nov.