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Article

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Human mutation - 1 Mar 2020

Mizumoto Shuji, Janecke Andreas R, Sadeghpour Azita, Povysil Gundula, McDonald Marie T, Unger Sheila, Greber-Platzer Susanne, Deak Kristen L, Katsanis Nicholas, Superti-Furga Andrea, Sugahara Kazuyuki, Davis Erica E, Yamada Shuhei, Vodopiutz Julia

Abstract excerpt

Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthesis and attachment of glycans. CDGs manifest as a broad spectrum of disease, most often including neurodevelopmental and skeletal abnormalities and skin laxity. Two patients with biallelic CSGALNACT1 variants and a mild skeletal dysplasia have been described previously. We investigated two...

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Identifiers

PMID: 31705726
DOI: 10.1002/humu.23952
PMCID: PMC7027858

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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