Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family

PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). METHODS: Probands with CC, FEVR,...

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Detalles Bibliográficos
Autores principales: Mackey, D.A., Hewitt, A.W., Ruddle, J.B., Vote, B., Buttery, R.G., Toomes, C., Metlapally, R., Li, Y.J., Tran-Viet, K.N., Malecaze, F., Calvas, P., Rosenberg, T., Guggenheim, J.A., Young, T.L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156798/
https://www.ncbi.nlm.nih.gov/pubmed/21850187

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