A Novel Mutation of LAMB2 in a Multi-Generational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome

PURPOSE: To describe a novel laminin beta-2 (LAMB2) mutation associated with nephritic syndrome and severe retinal disease without microcoria in a large, multi-generational family with Pierson syndrome. DESIGN: Retrospective chart review and prospective family examination. PARTICIPANTS: An extended...

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Bibliografski detalji
Glavni autori: Mohney, Brian G., Pulido, Jose S., Lindor, Noralane M., Hogan, Marie C., Consugar, Mark B., Peters, Justin, Pankratz, V. Shane, Nasr, Samih H., Smith, Stephen J., Gloor, James, Kubly, Vickie, Spencer, Dorothy, Nielson, Rebecca, Puffenberger, Erik G., Strauss, Kevin A., Morton, D. Holmes, Eldahdah, Lama, Harris, Peter C.
Format: Artigo
Jezik:Inglês
Izdano: 2011
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3223484/
https://ncbi.nlm.nih.gov/pubmed/21236492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2010.10.009
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