HIGHLIGHTS
- who: Lana Stavber and collaborators from the Clinical Institute for Special Laboratory Diagnostics, University Children`s Hospital, UMC have published the paper: Heterozygous NPR2 Variants in Idiopathic Short Stature, in the Journal: Genes 2022, 13, 1065. of 14/06/2022
- what: Using next-generation sequencing (NGS) the authors aimed to assess the frequency of NPR2 variants in the study cohort consisting of 150 children and adolescents with ISS describe the NPR2 phenotypic spectrum with growth pattern including birth data and study the response to growth hormone (GH) treatment. total of ten pathogenic/likely pathogenic NPR2 . . .
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