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Article

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

Annals of human genetics - 1 Jul 2015

Irfanullah, Umair Muhammad, Khan Saadullah, Ahmad Wasim

Abstract excerpt

Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide receptor B (NPR-B) that acts as an endogenous receptor for C-type natriuretic peptide (CNP). Both...

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Share to Bone Diseases, Developmental
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Atrial Natriuretic Factor

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Source

Identifiers

PMID: 25959430
DOI: 10.1111/ahg.12116

Genes

NPR2
CNP

Variants

Provenance

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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