Associated Papers
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.
Kart PO et al.
Neurogenetics, 2025
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Mulkey SB et al.
Pediatric Neurology, 2019
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L et al.
Molecular Genetics and Metabolism Reports, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Thiel C et al.
Human Mutation, 2012
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