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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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Dades bibliogràfiques
Publicat a:Int J Ophthalmol
Autors principals: Rong, Wei-Ning, Ma, Mei-Jiao, Yang, Wei, Yuan, Shi-Qin, Sheng, Xun-Lun
Format: Artigo
Idioma:Inglês
Publicat: International Journal of Ophthalmology Press 2021
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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