Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME.
Shurygina MF, et al.
Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2.
Invest Ophthalmol Vis Sci. 2020.
PMID: 33137195
Free PMC article.
Progression of posterior segment disease was highly variable, with some degree of increased atrophy of the macula or peripheral retina or increased vitreoretinal traction observed in 9 of 12 patients. CONCLUSIONS: Microcephaly due to mutations in KIF11, TUBGCP4, or TUBGCP6 …
Progression of posterior segment disease was highly variable, with some degree of increased atrophy of the macula or peripheral retin …