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Article

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Journal of medical genetics - 1 Feb 2016

Conboy Erin, Dhamija Radhika, Wang Margaret, Xie Jing, Dyck P James, Bridges Alina G, Spinner Robert J, Clayton Amy C, Watson Robert E, Messiaen Ludwine, Babovic-Vuksanovic Dusica

Abstract excerpt

BACKGROUND: Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and deafness. There is significant clinical overlap between NSML and other disorders that result from dysregulated rat sarcoma/mitogen-activated protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26337637
DOI: 10.1136/jmedgenet-2015-103177

Genes

PTPN11
SMARCB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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