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The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing
BACKGROUND: Congenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients. METHODS: Patients (n = 53) who were c...
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| Publicat a: | BMC Ophthalmol |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7469093/ https://ncbi.nlm.nih.gov/pubmed/32883240 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-020-01567-x |
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