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Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations

BACKGROUND: NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may account for 2% to 6% of idiopathic short stature...

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Bibliografiske detaljer
Udgivet i:J Clin Endocrinol Metab
Main Authors: Hanley, Patrick C, Kanwar, Harsh S, Martineau, Corine, Levine, Michael A
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2020
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7442278/
https://ncbi.nlm.nih.gov/pubmed/32720985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa491
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