Genotype and phenotype spectrum of NRAS germline variants.

doi:10.1038/ejhg.2017.65

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Article

Genotype and phenotype spectrum of NRAS germline variants.

European journal of human genetics : EJHG - 1 Jun 2017

Altmüller Franziska, Lissewski Christina, Bertola Debora, Flex Elisabetta, Stark Zornitza, Spranger Stephanie, Baynam Gareth, Buscarilli Michelle, Dyack Sarah, Gillis Jane, Yntema Helger G, Pantaleoni Francesca, van Loon Rosa LE, MacKay Sara, Mina Kym, Schanze Ina, Tan Tiong Yang, Walsh Maie, White Susan M, Niewisch Marena R, García-Miñaúr Sixto, Plaza Diego, Ahmadian Mohammad Reza, Cavé Hélène, Tartaglia Marco, Zenker Martin

Abstract excerpt

RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes...

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Identifiers

PMID: 28594414
DOI: 10.1038/ejhg.2017.65
PMCID: PMC5520077

Genes

NRAS
HRAS
KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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