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Article

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2023

Priolo Manuela, Mancini Cecilia, Radio Francesca Clementina, Chiriatti Luigi, Ciolfi Andrea, Cappelletti Camilla, Cordeddu Viviana, Pintomalli Letizia, Brusco Alfredo, Mammi Corrado, Tartaglia Marco

Abstract excerpt

Gain of function pathogenic variants in MRAS have been found in a small subset of pediatric subjects presenting with Noonan syndrome (NS) associated with hypertrophic cardiomyopathy (HCM) and moderate to severe intellectual disability. These variants are considered to confer a high-risk for the development of severe HCM with poor prognosis and fatal outcome. We report on the natural history of the first adult...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36734411
DOI: 10.1002/ajmg.c.32034

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