Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcorne...

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Detalles Bibliográficos
Autores principales: Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342166/
https://www.ncbi.nlm.nih.gov/pubmed/25719200
http://dx.doi.org/10.1371/journal.pgen.1005002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342166/
https://www.ncbi.nlm.nih.gov/pubmed/25719200
http://dx.doi.org/10.1371/journal.pgen.1005002

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