Keratoconus in a patient with B3GALT6-related disorder

Clin Genet. 2021 Jun;99(6):849-850. doi: 10.1111/cge.13940. Epub 2021 Feb 25.

Authors

Maria Descartes¹, Yulia V Melenevsky², Natasha Rudy¹, Kirstin Smith¹, Kaitlin Callaway¹, Jack S Parker³

Affiliations

¹ Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
² Department of Radiology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
³ Parker Cornea, Birmingham, Alabama, USA.

PMID: 33631843
DOI: 10.1111/cge.13940

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Galactosyltransferases / genetics*
Humans
Keratoconus / genetics*
Male
Mutation / genetics

Substances

B3GALT6 protein, human
Galactosyltransferases