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Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
BACKGROUND: Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. METHODS: Detailed family history and clinical data were collected, and op...
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| Publicado en: | BMC Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6915918/ https://ncbi.nlm.nih.gov/pubmed/31842807 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0933-5 |
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