Associated Papers
A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
Chen TY et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.
Chouery E et al.
Clinical Genetics, 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
AlAbdi L et al.
Human Genetics, 2024
An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
Tarapara B et al.
Journal of Biomolecular Structure & Dynamics, 2023
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM et al.
European Journal of Human Genetics : Ejhg, 2021
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Chen CA et al.
Human Mutation, 2020
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