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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC4342166?pdf=render |