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Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 nov...
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| Publicado en: | Sci Rep |
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| Autores principales: | , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4876406/ https://ncbi.nlm.nih.gov/pubmed/27212378 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26564 |
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