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Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
AIM: To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Thirteen patients with BPES and eight healthy family members were included in this study. All participants received routine oph...
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| 出版年: | Int J Ophthalmol |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
International Journal of Ophthalmology Press
2021
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8025160/ https://ncbi.nlm.nih.gov/pubmed/33875939 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2021.04.04 |
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