Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
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1. Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy;Investigative Opthalmology & Visual Science;2020-11-02
2. Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy;Investigative Opthalmology & Visual Science;2017-08-07
3. Zika virus infects cells lining the blood-retinal barrier and causes chorioretinal atrophy in mouse eyes;JCI Insight;2017-02-23
4. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations inKIF11;Acta Ophthalmologica;2015-05-21
5. Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy;The American Journal of Human Genetics;2015-04
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