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Article

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Human mutation - 1 Nov 2015

Ng Bobby G, Raymond Kimiyo, Kircher Martin, Buckingham Kati J, Wood Tim, Shendure Jay, Nickerson Deborah A, Bamshad Michael J, Wong Jonathan T S, Monteiro Fabiola Paoli, Graham Brett H, Jackson Sheryl, Sparkes Rebecca, Scheuerle Angela E, Cathey Sara, Kok Fernando, Gibson James B, Freeze Hudson H

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to identify causal variants in several affected individuals who had either an undifferentiated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26264460
DOI: 10.1002/humu.22856
PMCID: PMC4604052

Genes

SSR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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