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Article

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

American journal of human genetics - 1 Jun 2008

Hermanns Pia, Unger Sheila, Rossi Antonio, Perez-Aytes Antonio, Cortina Hector, Bonafé Luisa, Boccone Loredana, Setzu Valeria, Dutoit Michel, Sangiorgi Luca, Pecora Fabio, Reicherter Kerstin, Nishimura Gen, Spranger Jürgen, Zabel Bernhard, Superti-Furga Andrea

Abstract excerpt

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated ind...

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Source

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Identifiers

PMID: 18513679
DOI: 10.1016/j.ajhg.2008.05.006
PMCID: PMC2427316

Genes

CHST3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18513679-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.PMID 18513679Read ↗

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