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Article

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

American journal of medical genetics. Part A - 1 May 2021

Matalon Dena R, Stevenson David A, Bhoj Elizabeth J, Santani Avni B, Keena Beth, Cohen Meryl S, Lin Angela E, Sheppard Sarah E, Zackai Elaine H

Abstract excerpt

The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital...

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Identifiers

PMID: 33683002
DOI: 10.1002/ajmg.a.62146
PMCID: PMC8711298

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