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Article

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

American journal of medical genetics. Part A - 1 Sept 2017

Ueda Kimiko, Yaoita Masako, Niihori Tetsuya, Aoki Yoko, Okamoto Nobuhiko

Abstract excerpt

RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary...

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Share to Craniosynostoses
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 28650561
DOI: 10.1002/ajmg.a.38337

Genes

KRAS
BRAF
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.PMID 28650561Read ↗

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Clinical overview on RASopathies.Semantic proximity Read ↗

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