Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations
Author:
Affiliation:
1. Department of Pediatrics Hallym University College of Medicine Chuncheoun Korea
2. Department of Pediatrics Keio University School of Medicine Tokyo Japan
3. Department of Pediatrics Korea University College of Medicine Seoul Korea
Funder
National Research Foundation of Korea
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1146
Reference29 articles.
1. Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature
2. Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
3. WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation
4. Dwarfism and early death in mice lacking C-type natriuretic peptide
5. Intact Kinase Homology Domain of Natriuretic Peptide Receptor-B Is Essential for Skeletal Development
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1. Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature;Frontiers in Cell and Developmental Biology;2023-11-23
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