Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Eur J Hum Genet |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Springer International Publishing
2018
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| Pynciau: | |
| Mynediad Ar-lein: | 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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