NPR2 gene variants in familial short stature: a single-center study
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0332
Abstract: Abstract Objectives NPR2 variants are associated with various short stature and bone dysplasia, such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to Léri–Weill syndrome (LWD), and idiopathic short stature (ISS). However, few… read more here.
Keywords: stature; treatment; study; short stature ... 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