The value of diagnostic testing for parents of children with rare genetic diseases
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0583-1
Abstract: Exome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey. Our study examines how parents and families value ES. We developed a discrete… read more here.
Keywords: children rare; value diagnostic; reported child; value ... See more keywords