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Improving diagnosis for congenital cataract by introducing NGS genetic testing
Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequ...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
British Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5128776/ https://www.ncbi.nlm.nih.gov/pubmed/27933154 http://dx.doi.org/10.1136/bmjquality.u211094.w4602 |