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Article

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.

The Journal of clinical endocrinology and metabolism - 1 Oct 2020

Hanley Patrick C, Kanwar Harsh S, Martineau Corine, Levine Michael A

Abstract excerpt

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 (ISS). OBJECTIVE: Describe the physical proportions and growth characteristics of an extended family with novel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32720985
DOI: 10.1210/clinem/dgaa491
PMCID: PMC7442278

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