Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

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Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

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Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Coronary artery ectasia in Noo ...... utation and literature review.

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Anwar Baban

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Benedetta Leonardi

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Enrica De Luca

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Giacomo Pongiglione

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Maria Cristina Digilio

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P2860

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

Noonan syndrome: clinical aspects and molecular pathogenesis.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.

Coronary artery involvement in children with Kawasaki disease: risk factors from analysis of serial normalized measurements.

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Coronary artery ectasia in an adult Noonan syndrome detected on coronary CT angiography.

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scholarly article

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10.1002/AJMG.A.37505

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English

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170

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Giulio Calcagni

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2015-12-21T00:00:00Z

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26686981

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Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

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P2860

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Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

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