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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Karjosukarso, Dyah W., Cremers, Frans P. M., van Nouhuys, C. Erik, Collin, Rob W. J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer International Publishing 2018
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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