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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...

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Detalhes bibliográficos
Publicado no:BMJ Qual Improv Rep
Main Authors: Musleh, Mohammud, Ashworth, Jane, Black, Graeme, Hall, Georgina
Formato: Artigo
Idioma:Inglês
Publicado em: British Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5128776/
https://ncbi.nlm.nih.gov/pubmed/27933154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjquality.u211094.w4602
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