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Article

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2016

Kosho Tomoki

Abstract excerpt

Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described....

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Source

Identifiers

PMID: 26646600
DOI: 10.1111/ped.12878

Genes

CHST14

Provenance

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.

Related research

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CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.PMID 26646600Read ↗

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.Semantic proximity Read ↗

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.Semantic proximity Read ↗

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.Semantic proximity Read ↗

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.Semantic proximity Read ↗

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.Semantic proximity Read ↗

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.Semantic proximity Read ↗

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).Semantic proximity Read ↗

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.Semantic proximity Read ↗

Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.Semantic proximity Read ↗

The Ehlers-Danlos syndrome, a disorder with many faces.Semantic proximity Read ↗

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.Semantic proximity Read ↗

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