High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Endocrinology"
DOI: 10.1530/eje-19-0771
Abstract: Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center cohort study was… read more here.
Keywords: short stature; pathogenic acan; acan variants; intragenic deletion ... See more keywords