Case report
Open access
Sep 2026
Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM
The overlap between ventral body wall abnormalities in GOF disease and omphalocele associated with ABL1 haploinsufficiency suggests that precise regulation of ABL1 signaling is critical for normal ventral body wall formation.
Y. Zarate, Seungjae Oh, Julie E. Saldana Guzman et al.
· American Journal of Medical... · 0 citations