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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: The Association for Research in Vision and Ophthalmology 2020
Teme:
Retina
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki