Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR) | Zendy

Soo Hyun Seo | Zendy; Man Jin Kim | Zendy; Sung Wook Park | Zendy; Jeong Hun Kim | Zendy; Young Suk Yu | Zendy; Ji Yun Song | Zendy; Sung Im Cho | Zendy; Joo Hyun Ahn | Zendy; Yeon Hee Oh | Zendy; Hyukmin Lee | Zendy; Seungjun Lee | Zendy; MoonWoo Seong | Zendy; Sung Sup Park | Zendy; Kim J | Zendy

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Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR)

Author(s) -

Soo Hyun Seo,

Man Jin Kim,

Sung Wook Park,

Jeong Hun Kim,

Young Suk Yu,

Ji Yun Song,

Sung Im Cho,

Joo Hyun Ahn,

Yeon Hee Oh,

Hyukmin Lee,

Seungjun Lee,

MoonWoo Seong,

Sung Sup Park,

Kim J

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-20585

Subject(s) - biology , genetics , gene

Familial exudative vitreoretinopathy (FEVR) is a rare, hereditary visual disorder. The gene TSPAN12 is associated with autosomal dominant inheritance of FEVR. The prevalence and impact of large deletions/duplications of TSPAN12 on FEVR patients is unknown. To glean better insight of TSPAN12 on FEVR pathology, herein, we describe three FEVR patients with TSPAN12 deletions.

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