Bibliographic Details
| Title: |
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases. |
| Authors: |
Chouery, Eliane1 (AUTHOR), Mehawej, Cybel1 (AUTHOR), Mansour, Aline2 (AUTHOR), Corbani, Sandra1 (AUTHOR), Korban, Rima1 (AUTHOR), Zalloum, Richard3 (AUTHOR), Megarbane, Andre1,4 (AUTHOR) andre.megarbane@lau.edu.lb |
| Source: |
Clinical Genetics. Dec2024, Vol. 106 Issue 6, p782-785. 4p. |
| Subject Terms: |
*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] |
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| Database: |
Academic Search Complete |
