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Article

Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

American journal of medical genetics. Part A - 1 Dec 2015

Vegunta Sravanthi, Cotugno Richard, Williamson Amber, Grebe Theresa A

Abstract excerpt

Noonan syndrome (NS) is a multiple malformation syndrome characterized by pulmonic stenosis, cardiomyopathy, short stature, lymphatic dysplasia, craniofacial anomalies, cryptorchidism, clotting disorders, and learning disabilities. Eight genes in the RAS/MAPK signaling pathway are implicated in NS. Chronic pain is an uncommon feature. To investigate the prevalence of pain in NS, we distributed a two-part...

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Source

Identifiers

PMID: 26297936
DOI: 10.1002/ajmg.a.37337

Genes

PTPN11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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