Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108821
Abstract: Background Enzymes of the Golgi implicated in N-glycan processing are critical for brain development, and defects in many are defined as congenital disorders of glycosylation (CDG). Involvement of the Golgi mannosidase, MAN2A2 has not been… read more here.
Keywords: truncating variant; man2a2; neurological involvement; glycosylation ... See more keywords