Article

Novel Pathogenic NPR2 Variants in Short Stature Patients and the Therapeutic Response to rhGH

2022-09-23

Abstract excerpt

<title>Abstract</title> <p>Objective A heterozygous loss-of-function mutation in the NPR2 gene causes short stature with non-specific skeletal abnormalities, accounting for approximately 2 ~ 6% of all idiopathic short stature cases. The aim of this study was to analyze and identify pathogenic variants in the NPR2 gene, and to examine the therapeutic response to recombinant growth hormone (rhGH). Methods NPR2 wa...

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Literature Corpus work: a65579ea-0a5d-5480-b6f0-e808f05c4461
DOI: 10.21203/rs.3.rs-1991300/v1

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