CNP-related Short and Tall Stature: A Close-knit Family of Growth Disorders
Author:
Affiliation:
1. Section on Growth and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1103, USA
Publisher
The Endocrine Society
Subject
Endocrinology, Diabetes and Metabolism
Link
https://academic.oup.com/jes/advance-article-pdf/doi/10.1210/jendso/bvac064/43386014/bvac064.pdf
Reference8 articles.
1. Recent research on the growth plate: Recent insights into the regulation of the growth plate;Lui;J Mol Endocrinol.,2014
2. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux;Bartels;Am J Hum Genet.,2004
3. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature;Vasques;J Clin Endocrinol Metab.,2013
4. An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities;Hannema;J Clin Endocrinol Metab.,2013
5. Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities;Boudin;Am J Hum Genet.,2018
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