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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645200/
https://www.ncbi.nlm.nih.gov/pubmed/33137195
http://dx.doi.org/10.1167/iovs.61.13.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645200/
https://www.ncbi.nlm.nih.gov/pubmed/33137195
http://dx.doi.org/10.1167/iovs.61.13.2

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