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Article

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

PloS one - 1 Jan 2013

Tassano Elisa, Buttgereit Jens, Bader Michael, Lerone Margherita, Divizia Maria Teresa, Bocciardi Renata, Napoli Flavia, Pala Giovanna, Sloan-Béna Frédérique, Gimelli Stefania, Gimelli Giorgio

Abstract excerpt

Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1, is a molecule that regulates endochondral ossification of the cartilaginous growth plate and influences longitudinal bone growth. Two independent studies have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23805197
DOI: 10.1371/journal.pone.0066048
PMCID: PMC3689787

Genes

NPPC
CNP

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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