Concepedia

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

Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Pérez Aytés, H. Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, M. Dutoit, Luca Sangiorgi,

The American Journal of Human Genetics · 2008 · 106 citations · 19 references

DOIFull text

Open access

Concepts

References

19

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 289 citations · Full text

, , +14

Multiple congenital dislocations associated with characteristics facial abnormality

Loren J. Larsen, Edwin R. Schottstaedt, Frederic C. Bost · The Journal of Pediatrics · 1950 · 271 citations

, , +11

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

Antonio Rossi, Andrea Superti‐Furga · Human Mutation · 2001 · 198 citations

, , +15

Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis

Michael Klüppel, Thomas N. Wight, Christina K. Chan et al. · Development · 2005 · 194 citations

, , +17

Loss of chondroitin 6- <i>O</i> -sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Hölger Thiele, Masahiro Sakano, Hiroshi Kitagawa et al. · Proceedings of the National Academy of Sciences · 2004 · 192 citations · Full text

, , +12