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Start Over Author "Zalloum, Richard" Topic left ventricular hypertrophy
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1. Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Author

Chouery, Eliane, Mehawej, Cybel, Mansour, Aline, Corbani, Sandra, Korban, Rima, Zalloum, Richard, and Megarbane, Andre

Subjects
VENTRICULAR outflow obstruction, CONGENITAL heart disease, SINUS of valsalva, PULMONARY valve, PULMONARY stenosis, VENTRICULAR septal defects, LEFT ventricular hypertrophy, AORTIC valve
Abstract

The article in Clinical Genetics explores ABL1 deficiency syndromes, highlighting how mutations in different isoforms can lead to distinct diseases. The study focuses on a Lebanese consanguineous family with cardiac abnormalities, revealing a novel likely pathogenic variant in ABL1. The findings suggest that variants affecting different ABL1 isoforms may result in unique phenotypes, emphasizing the need for further research to fully understand ABL1-associated disorders. [Extracted from the article]

Published
2024
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