Keratoconus in a patient with B3GALT6‐related disorder
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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
Posterior keratoconus in a patient with familial exudative vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2020 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_1790_19
Abstract: Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported… read more here.
Keywords: keratoconus patient; exudative vitreoretinopathy; posterior keratoconus; patient familial ... See more keywords