Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy
Investigative Ophthalmology & Visual Science2020Vol. 61(13), pp. 2–2
Citations Over TimeTop 21% of 2020 papers
М. Ф. Шурыгина, Joseph M. Simonett, Maria A. Parker, Amanda Mitchell, Florin Grigorian, Jacob Lifton, Aaron Nagiel, А. А. Шпак, Е. Л. Дадали, Irina Mishina, Richard G. Weleber, Paul Yang, Mark E. Pennesi
Abstract
Microcephaly due to mutations in KIF11, TUBGCP4, or TUBGCP6 can be associated with retinal disease on a spectrum from chorioretinal atrophy to FEVR-like posterior segment changes. Visually significant disease progression can occur and patients should be monitored closely by a team experienced in ophthalmic genetics.
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