Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

Abstract excerpt

BACKGROUND: Achromatopsia (ACHM) is a severe congenital autosomal recessive retinal disorder caused by loss of cone photoreceptors. Here, we aimed to determine the underlying genetic lesions and phenotypic correlations in two Chinese families with ACHM. METHODS: Medical history and clinical evaluation were obtained from both families. Targeted exome sequencing (TES) was performed on 201 disease-causing genes of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Color Vision Defects
• Share to Crystallography, X-Ray