Associated Papers
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.
Kaymak D et al.
American Journal of Medical Genetics. Part A, 2023
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM et al.
Journal of Inherited Metabolic Disease, 2020
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse W et al.
Journal of the American Society of Nephrology : Jasn, 2019
ALG9-CDG: New clinical case and review of the literature.
Davis K et al.
Molecular Genetics and Metabolism Reports, 2017
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S et al.
American Journal of Medical Genetics. Part A, 2017
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E et al.
European Journal of Human Genetics : Ejhg, 2016
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
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