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Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case...

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_acfce8b70faa432595efb08e28dad688

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

About this item

Full title

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

Publisher

England: BioMed Central Ltd

Journal title

Pediatric Rheumatology, 2024-01, Vol.22 (1), p.17-17, Article 17

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_acfce8b70faa432595efb08e28dad688

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_acfce8b70faa432595efb08e28dad688

Other Identifiers

ISSN

1546-0096

E-ISSN

1546-0096

DOI

10.1186/s12969-023-00939-z

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