BMC Ophthalmology is associated with Cochrane Eyes and Vision
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...