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Article

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

The Journal of clinical endocrinology and metabolism - 1 Oct 2013

Vasques Gabriela A, Amano Naoko, Docko Ana J, Funari Mariana F A, Quedas Elisangela P S, Nishi Mirian Y, Arnhold Ivo J P, Hasegawa Tomonobu, Jorge Alexander A L

Abstract excerpt

CONTEXT: Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux, homozygous for mutations in natriuretic peptide receptor B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some children with idiopathic short stature (ISS). OBJECTIVE: The objective of the study was to investigate the...

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Source

Identifiers

PMID: 24001744
DOI: 10.1210/jc.2013-2142

Genes

NPR2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.PMID 24001744Read ↗

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