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Article

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Clinical genetics - 1 Sept 2026

Genç Aslı, Sarıkaya Elif, Ceylan Ahmet Cevdet, Çavdarlı Büşranur, Çetin İbrahim İlker, Erdoğan İlkay, Kılıç Esra

Abstract excerpt

RASopathies are clinically and genetically heterogeneous disorders resulting from dysregulation of the RAS/MAPK pathway. We present a single-center retrospective cohort of 118 genotype-confirmed pediatric patients diagnosed with RASopathy. Noonan syndrome was the most common clinical diagnosis, followed by NF-Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome....

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Source

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Identifiers

PMID: 42261585
DOI: 10.1111/cge.70193
PMCID: PMC13431839

Genes

HRAS
RASA2
BRAF
CBL
KRAS
LZTR1
MAP2K2
PTPN11
RAF1
RIT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.PMID 42261585Read ↗

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