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Article

Novel Variants in PTPN11 , NF1 , RASA2 , and MAP2K1 : Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Clinical genetics - 1 Jul 2026

Kocak Eker Hatice, Akın Duman Tugba, Duymus Fahrettin, Basdemirci Muserref, Eser Cavdartepe Busra, Çiftci Nurdan, Simsek Levent

Abstract excerpt

RASopathies are a group of genetically heterogeneous developmental disorders caused by germline variants affecting the RAS/MAPK signaling pathway. These disorders display overlapping clinical features and diverse molecular mechanisms. This study aimed to evaluate the clinical and molecular spectrum of patients diagnosed with RASopathies, with a particular focus on novel and rare variants. A retrospective,...

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Source

Identifiers

PMID: 41854160
DOI: 10.1111/cge.70162

Genes

RASA2
MAP2K1
NF1
PTPN11
BRAF
LZTR1
SOS1

Variants

Provenance

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

Related research

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Novel Variants in PTPN11 , NF1 , RASA2 , and MAP2K1 : Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.PMID 41854160Read ↗

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