Associated Papers
Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy.
Li N et al.
Frontiers in Pediatrics, 2025
41210240 (PubMed )
Supplement: Datasheet1.zip › Supplementary_table.xlsx › Sheet1
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
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni C et al.
Human Mutation, 2021
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