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Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Human mutation - 1 Jan 2017

Vodopiutz Julia, Mizumoto Shuji, Lausch Ekkehart, Rossi Antonio, Unger Sheila, Janocha Nikolaus, Costantini Rossella, Seidl Rainer, Greber-Platzer Susanne, Yamada Shuhei, Müller Thomas, Jilma Bernd, Ganger Rudolf, Superti-Furga Andrea, Ikegawa Shiro, Sugahara Kazuyuki, Janecke Andreas R

Abstract excerpt

Mutations in genes encoding enzymes responsible for the biosynthesis and structural diversity of glycosaminoglycans (GAGs) cause a variety of disorders affecting bone and connective tissues, including Desbuquois dysplasia (DD). In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion, and a...

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Identifiers

PMID: 27599773
DOI: 10.1002/humu.23070

Genes

CSGALNACT1

Variants

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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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