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Article

Further evidence of the importance of RIT1 in Noonan syndrome.

American journal of medical genetics. Part A - 1 Nov 2014

Bertola Débora R, Yamamoto Guilherme L, Almeida Tatiana F, Buscarilli Michelle, Jorge Alexander A L, Malaquias Alexsandra C, Kim Chong A, Takahashi Vanessa N V, Passos-Bueno Maria Rita, Pereira Alexandre C

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder consisting of short stature, short and/or webbed neck, distinctive facial features, cardiac abnormalities, cryptorchidism, and coagulation defects. NS exhibits genetic heterogeneity, associated with mutated genes that participate in RAS-mitog...

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Source

Identifiers

PMID: 25124994
DOI: 10.1002/ajmg.a.36722

Genes

RIT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25124994-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Further evidence of the importance of RIT1 in Noonan syndrome.PMID 25124994Read ↗

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Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Semantic proximity Read ↗

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.Semantic proximity Read ↗

Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotypeSemantic proximity Read ↗

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.Semantic proximity Read ↗

Noonan syndrome.Semantic proximity Read ↗

Next-generation sequencing identifies rare variants associated with Noonan syndrome.Semantic proximity Read ↗

Noonan syndrome – a new surveySemantic proximity Read ↗

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Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.Semantic proximity Read ↗

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.Semantic proximity Read ↗

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