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
Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.819074
Abstract: Objective ACAN gene variants are an important cause of familial short stature (FSS). Appropriate growth-promoting therapies effectively improve the patient height. Here, we report a therapeutic assessment of cases of seven families of FSS patients… read more here.
Keywords: growth; short stature; acan variants; treatment ... See more keywords