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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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