An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.

doi:10.1210/jc.2013-2358

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Article

An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.

The Journal of clinical endocrinology and metabolism - 1 Dec 2013

Hannema Sabine E, van Duyvenvoorde Hermine A, Premsler Thomas, Yang Ruey-Bing, Mueller Thomas D, Gassner Birgit, Oberwinkler Heike, Roelfsema Ferdinand, Santen Gijs W E, Prickett Timothy, Kant Sarina G, Verkerk Annemieke J M H, Uitterlinden André G, Espiner Eric, Ruivenkamp Claudia A L, Oostdijk Wilma, Pereira Alberto M, Losekoot Monique, Kuhn Michaela, Wit Jan M

Abstract excerpt

BACKGROUND: C-type natriuretic peptide (CNP)/natriuretic peptide receptor 2 (NPR2) signaling is essential for long bone growth. Enhanced CNP production caused by chromosomal translocations results in tall stature, a Marfanoid phenotype, and skeletal abnormalities. A similar phenotype was described in a family with an activating NPR2 mutation within the guanylyl cyclase domain. CASE: Here we describe an extremely...

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PMID: 24057292
DOI: 10.1210/jc.2013-2358

Genes

NPR2
CNP

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.

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