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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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Bibliographische Detailangaben
Veröffentlicht in:PLoS Genet
Hauptverfasser: Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
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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