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Whole exome sequence analysis of Peters anomaly

Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters ano...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Weh, Eric, Reis, Linda M., Happ, Hannah C., Levin, Alex V., Wheeler, Patricia G., David, Karen L., Carney, Erin, Angle, Brad, Hauser, Natalie, Semina, Elena V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4395516/
https://ncbi.nlm.nih.gov/pubmed/25182519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-014-1481-x
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