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Article

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature.

American journal of medical genetics. Part A - 1 May 2026

Madenidou Anastasia-Vasiliki, Rice Gillian I, O'Sullivan James, Parker Ben, Bruce Ian N, Burkitt-Wright Emma, Briggs Tracy A

Abstract excerpt

RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I. There is emerging evidence of the association between Noonan syndrome spectrum disorders (NSSD) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41496732
DOI: 10.1002/ajmga.70035

Genes

SOS1
KRAS
PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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