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Article

Novel Features of RASopathies: Liver Disease as an Emerging Phenotype.

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

Rippert Alyssa L, Strong Alanna, Ahrens-Nicklas Rebecca C

Abstract excerpt

RASopathies are a clinically and genetically heterogeneous group of conditions caused by pathogenic variants in genes encoding RAS/MAPK pathway components. Liver involvement has been reported, but systematic evaluation of liver involvement in individuals with RASopathies has not been performed, limiting anticipatory guidance and screening development. We aim to characterize liver involvement in RASopathies. The...

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Identifiers

PMID: 41641652
DOI: 10.1002/ajmga.70079

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BRAF

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