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Article

Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?

Molecular genetics and metabolism - 1 Jun 2012

Choudhry Kiran S, Grover Monica, Tran Alyssa A, O'Brian Smith E, Ellis Kenneth J, Lee Brendan H

Abstract excerpt

INTRODUCTION: Noonan syndrome (NS) is a disorder of RAS- mitogen activated protein kinase (MAPK) pathway with clinical features of skeletal dysplasia. This pathway is essential for regulation of cell differentiation and growth including bone homeostasis. Currently, limited information exists rega...

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Identifiers

PMID: 22551697
DOI: 10.1016/j.ymgme.2012.04.003
PMCID: PMC3356458

Genes

PTPN11
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22551697-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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