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Monogenic Systemic Lupus Erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

2023-10-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants. RASopathies, a group of disorders caused by mutations in the RAS/MAPK pathway, have been recently described as a cause of...

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Literature Corpus work: 9d3a17c1-b6e4-56a8-94e7-79ceac4d392d
DOI: 10.21203/rs.3.rs-3225665/v1

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