All through school, Rick Bishop, 58, wore thick glasses for nearsightedness. As an adult, he was outfitted with two hearing aids. At 40, he had a detached retina in his left eye. “I thought that was a ...

This paper will illustrate how variation in the processing of mutant pre-mRNA can affect the phenotypic outcome of inherited disorders of type II collagen. Here, we demonstrate and discuss how ...

Overview A group of hereditary disorders of the connective tissue that causes problems of vision, hearing, joint and facial abnormalities. Symptoms It is characterized by distinctive facial features, ...

In the clinical setting, the degenerate nature of the splicing regulatory signals results in uncertainty as to whether some sequence variants that may affect mRNA processing are pathogenic.