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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Enregistré dans:
Détails bibliographiques
Publié dans:Invest Ophthalmol Vis Sci
Auteurs principaux: 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
Langue:Inglês
Publié: The Association for Research in Vision and Ophthalmology 2020
Sujets:
Retina
Accès en ligne: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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