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Article

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

American journal of medical genetics. Part A - 1 Feb 2016

Wang Wei, Song Mi Hyun, Miura Kohji, Fujiwara Makoto, Nawa Nobutoshi, Ohata Yasuhisa, Kitaoka Taichi, Kubota Takuo, Namba Noriyuki, Jin Dong Kyu, Kim Ok Hwa, Ozono Keiichi, Cho Tae-Joon

Abstract excerpt

The C-type natriuretic peptide (CNP)-natriuretic peptide receptor 2 (NPR2) signaling pathway plays an important role in chondrocyte development. Homozygous loss-of-function mutations of the NPR2 gene cause acromesomelic dysplasia, type Maroteaux (AMDM). The aim of this study was to identify and characterize NPR2 loss-of-function mutations in patients with AMDM. The NPR2 gene was sequenced in three Korean patients...

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Source

Identifiers

PMID: 26567084
DOI: 10.1002/ajmg.a.37463

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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Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.PMID 26567084Read ↗

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