Osteogenesis imperfectaGene: B3GAT3
Only two families described with variants in this gene thought to be pathogenic.
Created: 6 Oct 2015, 11:34 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
B3GAT3 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen