Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

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. Patients diagnosed with congenital microcephaly...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2020-11, Vol.61 (13), p.2-2
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool DNA Mutational Analysis Electroretinography Familial Exudative Vitreoretinopathies - diagnosis Familial Exudative Vitreoretinopathies - genetics Familial Exudative Vitreoretinopathies - physiopathology Female Follow-Up Studies Genetic Association Studies Humans Infant Infant, Newborn Kinesin - genetics Male Microcephaly - diagnosis Microcephaly - genetics Microcephaly - physiopathology Microtubule-Associated Proteins - genetics Mutation Retina Retinal Diseases - diagnosis Retinal Diseases - genetics Retinal Diseases - physiopathology Vision Disorders - diagnosis Vision Disorders - physiopathology Visual Acuity - physiology Visual Field Tests Visual Fields - physiology
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