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Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Authors :
Chouery, Eliane
Mehawej, Cybel
Mansour, Aline
Corbani, Sandra
Korban, Rima
Zalloum, Richard
Megarbane, Andre
Source :
Clinical Genetics. Dec2024, Vol. 106 Issue 6, p782-785. 4p.
Publication Year :
2024

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]

Details

Language :
English
ISSN :
00099163
Volume :
106
Issue :
6
Database :
Academic Search Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
180622158
Full Text :
https://doi.org/10.1111/cge.14609