Associated Papers
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Y et al.
Journal of Human Genetics, 2020
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N et al.
Human Mutation, 2019
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
Fiumara A et al.
Jimd Reports, 2016
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