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

All reported ABL1 gain of function and loss of function (LOF) variants, impact both isoforms 1a and 1b. Our findings suggest that LOF variants affecting solely ABL1 isoform 1b may lead to a distinct autosomal recessive new phenotype. The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request.