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Article

Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.

Human mutation - 1 Feb 2021

Castiglioni Claudia, Feillet François, Barnerias Christine, Wiedemann Arnaud, Muchart Jordi, Cortes Fanny, Hernando-Davalillo Cristina, Montero Raquel, Dupré Thierry, Bruneel Arnaud, Seta Nathalie, Vuillaumier-Barrot Sandrine, Serrano Mercedes

Abstract excerpt

Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pathogenic variants in SSR4 cause a congenital disorder of glycosylation: SSR4-congenital disorders of glycosylation (CDG). We describe three SSR4-CDG boys and review...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33300232
DOI: 10.1002/humu.24151

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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