Keratoconus in a patient with B3GALT6‐related disorder
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13940
Abstract: To the Editor: B3GALT6 is a single exon gene on 1p36.33, and it encodes β3GalT6 (β-1,3galactosyltransferase 6), which functions in glycosaminoglycans (GAG) synthesis. Biallelic mutations in B3GALT6 lead to reduced GAG synthesis, activity, and abnormal… read more here.
Keywords: patient b3galt6; age; keratoconus patient; age years ... See more keywords