Associated Papers
Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.
Jeong R et al.
American Journal of Human Genetics, 2026
41512838 (PubMed )
Supplement: mmc10.xlsx › LoF_and_partial_LoF
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K et al.
Nature Communications, 2021
33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM1_ESM.pdf
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Ke X et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Irfanullah et al.
The International Journal of Biochemistry & Cell Biology, 2018
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