Associated Papers
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation.
Wang Q et al.
Journal of Human Genetics, 2025
Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy.
Li N et al.
Frontiers in Pediatrics, 2025
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Johnsen C et al.
Molecular Genetics and Metabolism, 2024
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.
Wang J et al.
Frontiers in Genetics, 2022
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Ng BG et al.
Human Mutation, 2015
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