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Article

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

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

Keehan Laura, Sleightholm Richard, Marks Lianna J, Stevenson David A, Niehaus Annie D

Abstract excerpt

The Ras/mitogen-activated protein kinase (RAS/MAPK) pathway regulates cell proliferation, and dysregulation of this pathway has been linked to the increased risk of malignancy in a subset of disorders known as RASopathies (e.g., NF1, Costello syndrome, Noonan syndrome). However, reports of malignancy are rare in cardiofaciocutaneous (CFC) syndrome, which is caused by heterozygous pathogenic variants in BRAF,...

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Source

Identifiers

PMID: 41174928
DOI: 10.1002/ajmg.a.64294

Genes

BRAF
KRAS
MAP2K1
MAP2K2
NF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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