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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...
Autores principales: | Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
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 |
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