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Article

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

The Journal of clinical endocrinology and metabolism - 1 Apr 2006

Olney Robert C, Bükülmez Hülya, Bartels Cynthia F, Prickett Timothy C R, Espiner Eric A, Potter Lincoln R, Warman Matthew L

Abstract excerpt

CONTEXT: C-type natriuretic peptide (CNP) is an important regulator of skeletal growth. Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive skeletal dysplasia, acromesomelic dysplasia, Maroteaux type (AMDM). The phenotype of heterozygous carriers of NPR2 mutations is less clear. OBJECTIVE: The objective of the study was to determine the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Atrial Natriuretic Factor

Source

Identifiers

PMID: 16384845
DOI: 10.1210/jc.2005-1949

Genes

NPR2
CNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.PMID 16384845Read ↗

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.Semantic proximity Read ↗

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.Semantic proximity Read ↗

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.Semantic proximity Read ↗

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteauxSemantic proximity Read ↗

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.Semantic proximity Read ↗

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.Semantic proximity Read ↗

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.Semantic proximity Read ↗

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.Semantic proximity Read ↗

Role of the natriuretic peptide system in normal growth and growth disorders.Semantic proximity Read ↗

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.Semantic proximity Read ↗

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutationsSemantic proximity Read ↗

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.Semantic proximity Read ↗

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