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首页> Ophthalmic genetics> Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies

Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies

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作者： Gupta, Mrinali P. ^[1] ; Talcott, Katherine E. ^[2] ; Kim, David Y. ; Agarwal, Suneet ; Mukai, Shizuo

作者单位： Harvard Med Sch, Massachusetts Eye & Ear, Dept Ophthalmol, Retina Serv, Boston, MA USA ^[1] Harvard Med Sch, Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA ^[2]

关键词 Coats plus dyskeratosis congenital FEVR Revesz syndrome telomerase telomere TIN2 TINF2 Wnt

发布时间 2018-01-30

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