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
ALG9-CDG: New clinical case and review of the literature.
Davis K et al.
Molecular Genetics and Metabolism Reports, 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
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