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Article

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

American journal of medical genetics. Part A - 1 Aug 2024

Stellacci Emilia, Carter Jennefer N, Pannone Luca, Stevenson David, Moslehi Dorsa, Venanzi Serenella, Bernstein Jonathan A, Tartaglia Marco, Martinelli Simone

Abstract excerpt

Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having clinical overlap with Noonan syndrome (NS) and predisposing to juvenile...

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Identifiers

PMID: 38613168
DOI: 10.1002/ajmg.a.63627
PMCID: PMC11223960

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