Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

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 indivi...

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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2008
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Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427316/
https://ncbi.nlm.nih.gov/pubmed/18513679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.006
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