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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...
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| Veröffentlicht in: | PLoS Genet |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Public Library of Science
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4342166/ https://ncbi.nlm.nih.gov/pubmed/25719200 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005002 |
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