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Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

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第一作者： Moxin,Chen

第一单位： Department of Ophthalmology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 639 Zhizaoju Road, Huangpu District, 200011, Shanghai, China.;Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.

作者： Moxin,Chen ^[1] ; Rui,Huang ^[1] ; Yingjie,Zhang ^[1] ; Deyi Jasmine,Zhu ^[2] ; Qin,Shu ^[1] ; Pengcheng,Xun ^[3] ; Jing,Zhang ^[4] ; Ping,Gu ^[5] ; Lin,Li ^[6]

作者单位： Department of Ophthalmology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 639 Zhizaoju Road, Huangpu District, 200011, Shanghai, China.;Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. ^[1] Brooks School, North Andover, MA, USA. ^[2] Department of Global Value Access and Outcomes, Atara Biotherapeutics, Thousand Oaks, CA, USA. ^[3] Department of Ophthalmology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 639 Zhizaoju Road, Huangpu District, 200011, Shanghai, China. zhjingty@126.com.;Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. zhjingty@126.com. ^[4] Department of Ophthalmology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 639 Zhizaoju Road, Huangpu District, 200011, Shanghai, China. guping2009@126.com.;Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. guping2009@126.com. ^[5] Department of Ophthalmology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 639 Zhizaoju Road, Huangpu District, 200011, Shanghai, China. jannetlee1300@163.com.;Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. jannetlee1300@163.com. ^[6]

关键词 CFEOM1 Hotspot mutations KIF21A Ptosis

医学主题词人类(Humans);动眼肌(Oculomotor Muscles);基因型(Genotype);眼肌麻痹(Ophthalmoplegia);纤维化(Fibrosis);表型(Phenotype);眼睑下垂(Blepharoptosis)

DOI 10.1007/s00417-022-05830-3

PMID 36138147

发布时间 2023-03-09

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Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

2023年261卷3期

879-889页

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Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

2023年261卷3期

879-889页

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Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

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Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

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Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

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