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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Dades bibliogràfiques
Publicat a:Invest Ophthalmol Vis Sci
Autors principals: 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
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2020
Matèries:
Retina
Accés en línia: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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