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: mmc9.xlsx › Height_associations_with_NPR2
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.
Badawi S et al.
Frontiers in Cell and Developmental Biology, 2023
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper PO et al.
Journal of Human Genetics, 2021
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
A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.
Amano N et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020
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