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Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

BACKGROUND: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lan...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Javadiyan, Shari, Lucas, Sionne E. M., Wangmo, Dechen, Ngy, Meng, Edussuriya, Kapila, Craig, Jamie E., Rudkin, Adam, Casson, Robert, Selva, Dinesh, Sharma, Shiwani, Lower, Karen M., Meucke, James, Burdon, Kathryn P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081222/
https://ncbi.nlm.nih.gov/pubmed/29770612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.406
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