Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

Peters anomaly (PA) is a congenital corneal opacity associated with corneo-lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular c...

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Bibliographic Details
Published in:Clin Genet
Main Authors: Reis, Linda M., Houssin, Nathalie S., Zamora, Carlos, Abdul-Rahman, Omar, Kalish, Jennifer M, Zackai, Elaine H., Plageman, Timothy F., Semina, Elena V.
Format: Artigo
Language:Inglês
Published: 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7028510/
https://ncbi.nlm.nih.gov/pubmed/31650526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13660
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