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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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| Publicat a: | Int J Ophthalmol |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Journal of Ophthalmology Press
2021
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| Matèries: | |
| Accés en línia: | 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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