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Article

Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era.

The Journal of pediatrics - 1 Nov 2023

Kim Susan Taejung, Lee Sang Yun, Kim Gi Beom, Bae Eun Jung, Ko Jung Min, Song Mi Kyoung

Abstract excerpt

INTRODUCTION: To investigate cardiovascular characteristics and progressions of hypertrophic cardiomyopathy (HCM) and pulmonary stenosis (PS) and determine whether any genotype-phenotype correlations exist in patients with gene-confirmed RASopathy syndrome. STUDY DESIGN: Eighty patients (male, 55%) confirmed as having RASopathy syndrome by genetic testing at a single tertiary center were enrolled. Subjects'...

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PMID: 36806754
DOI: 10.1016/j.jpeds.2022.12.045

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