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
Heterozygous NPR2 Variants in Idiopathic Short Stature
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13061065
Abstract: Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6% cases of idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aimed… read more here.
Keywords: npr2 variants; growth; heterozygous npr2; short stature ... See more keywords