Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

doi:10.1002/ajmg.a.33641

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Article

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

American journal of medical genetics. Part A - 1 Oct 2010

Unger Sheila, Lausch Ekkehart, Rossi Antonio, Mégarbané Andre, Sillence David, Alcausin Melanie, Aytes Antonio, Mendoza-Londono Roberto, Nampoothiri Sheela, Afroze Bushra, Hall Bryan, Lo Ivan F M, Lam Stephen T S, Hoefele Julia, Rost Imma, Wakeling Emma, Mangold Elisabeth, Godbole Komudi, Vatanavicharn Nithiwat, Franco Luis M, Chandler Kate, Hollander Sophia, Velten Tanja, Reicherter Kerstin, Spranger Jürgen, Robertson Stephen, Bonafé Luisa, Zabel Bernhard, Superti-Furga Andrea

Abstract excerpt

We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additiona...

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PMID: 20830804
DOI: 10.1002/ajmg.a.33641

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CHST3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20830804-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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