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Heterozygous NPR2 Variants in Idiopathic Short Stature

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 to assess the frequency of NPR2 variants in our study...

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Detalles Bibliográficos
Autores principales: Stavber, Lana, Gaia, Maria Joao, Hovnik, Tinka, Jenko Bizjan, Barbara, Debeljak, Maruša, Kovač, Jernej, Omladič, Jasna Šuput, Battelino, Tadej, Kotnik, Primož, Dovč, Klemen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222219/
https://www.ncbi.nlm.nih.gov/pubmed/35741827
http://dx.doi.org/10.3390/genes13061065