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A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract

BACKGROUND: Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract. METHODS: The proband and her parents underwent full ophthalmo...

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Dettagli Bibliografici
Pubblicato in:BMC Med Genet
Autori principali: Fan, Qi, Li, Dan, Cai, Lei, Qiu, Xiaodi, Zhao, Zhennan, Wu, Jihong, Yang, Jin, Lu, Yi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6425703/
https://ncbi.nlm.nih.gov/pubmed/30894134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0782-2
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