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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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| Publié dans: | BMC Med Genet |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2019
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| Sujets: | |
| Accès en ligne: | 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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