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Article

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

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

Gos Monika, Fahiminiya Somayyeh, Poznański Jarosław, Klapecki Jakub, Obersztyn Ewa, Piotrowicz Małgorzata, Wierzba Jolanta, Posmyk Renata, Bal Jerzy, Majewski Jacek

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24939608
DOI: 10.1002/ajmg.a.36646

Genes

RIT1

Provenance

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Related research

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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.PMID 24939608Read ↗

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Further evidence of the importance of RIT1 in Noonan syndrome.Semantic proximity Read ↗

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Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.Semantic 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 ↗

The molecular functions of RIT1 and its contribution to human disease.Semantic proximity Read ↗

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

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

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

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

Noonan syndrome.Semantic proximity Read ↗

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