Identification of an Alu‐repeat‐mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

Genetic causes of ocular conditions remain largely unknown. To reveal the molecular basis for a congenital ocular phenotype associated with glaucoma we performed whole‐exome sequencing (WES) and whole‐genome copy number analyses of patient DNA. WES did not identify a causative variant. Copy number v...

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Detalles Bibliográficos
Autores principales: Schilter, Kala F., Reis, Linda M., Sorokina, Elena A., Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694134/
https://www.ncbi.nlm.nih.gov/pubmed/26740941
http://dx.doi.org/10.1002/mgg3.159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694134/
https://www.ncbi.nlm.nih.gov/pubmed/26740941
http://dx.doi.org/10.1002/mgg3.159

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