ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac...

Source: BMC Ophthalmology - June 5, 2021 Category: Opthalmology Authors: Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik and Petra Liskova Tags: Research Source Type: research