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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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
Assuntos:
Retina
Acesso em linha: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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