Article

Mosaic RASopathies: Comprehensive Genetic and Clinicopathological Analysis for Diagnosis and Management

2026-08-19

Abstract excerpt

Mosaic RASopathies are rare conditions caused by postzygotic mutations in RAS/MAPK signaling pathway genes arising during embryonic development. They are mainly characterized by a combination of epidermal nevi with extra-cutaneous manifestations. Choosing between different entities can be challenging because of their substantial clinical and genetic overlap. Our aim was to demonstrate the importance of genetic bac...

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Literature Corpus work: bacc53a5-a011-55e4-90e9-8c6dc8381c7b
DOI: 10.20944/preprints202608.1287.v1

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