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Article

Clinical overview on RASopathies.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2022

Zenker Martin

Abstract excerpt

RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan...

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Identifiers

PMID: 36428239
DOI: 10.1002/ajmg.c.32015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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