Ontology highlight
ABSTRACT:
SUBMITTER: Chen XT
PROVIDER: S-EPMC4630996 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Chen Xi-Teng XT Huang Hui H Chen Yan-Hua YH Dong Li-Jie LJ Li Xiao-Rong XR Zhang Xiao-Min XM
International journal of ophthalmology 20151018 5
<h4>Aim</h4>To identify the genetic defects in a Chinese family with achromatopsia.<h4>Methods</h4>A 2.5-year-old boy, who displayed nystagmus, photophobia, and hyperopia since early infancy, was clinically evaluated. To further confirm and localize the causative mutations in this family, targeted region capture and next-generation sequencing of candidate genes, such as CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H were performed using a custom-made capture array.<h4>Results</h4>Slit-lamp examination sh ...[more]