Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

PURPOSE: The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6. METHODS: Patients diagnosed with conge...

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Bibliografski detalji
Izdano u:Invest Ophthalmol Vis Sci
Glavni autori: Shurygina, Maria F., Simonett, Joseph M., Parker, Maria A., Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A., Dadali, Elena L., Mishina, Irina A., Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
Format: Artigo
Jezik:Inglês
Izdano: The Association for Research in Vision and Ophthalmology 2020
Teme:
Retina
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7645200/
https://ncbi.nlm.nih.gov/pubmed/33137195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.13.2
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