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Article

CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.

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

Harrington Caitlin N, Kohl Emily, Gilitwala Zainab, Teng Joyce, Siegel Dawn H, Charville Gregory W, Steffner Robert J, Stevenson David A

Abstract excerpt

CBL syndrome is a RASopathy with phenotypic variability including neurodevelopmental differences, cardiac defects, growth delay, dysmorphic and cutaneous findings, hematologic, immunologic, and vascular manifestations, and predisposition to juvenile myelomonocytic leukemia (JMML). We present a patient with a germline likely pathogenic variant in CBL with ten café au lait macules and a recurrent granular cell...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41964119
DOI: 10.1002/ajmg.a.70165

Genes

CBL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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