Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Contents
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 microcornea, cataracts, and skeletal dysplasia identified a...
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Full title
Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
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TN_cdi_plos_journals_1685138806
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685138806
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1005002
