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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...
Shranjeno v:
| izdano v: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2016
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| Teme: | |
| Online dostop: | 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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