Učitavanje...
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly
Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder, which is primarily characterized by abnormal development of retinal vasculature. In this study, we reported a subject presenting the clinical features of FEVR as well as microcephaly. Screening of the KIF11 gene in this pa...
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| Izdano u: | Eur J Hum Genet |
|---|---|
| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer International Publishing
2018
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6244075/ https://ncbi.nlm.nih.gov/pubmed/30181612 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0243-y |
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