Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier; Danielle Martinet; John Bateman; Dan Belluoccio; Lynn Rowley; Tiong Yang Tan; Alica Baxova; Karl-Henrik Gustavson; Zvi U Borochowitz; A Micheil Innes; Sheila Unger; Jacques S Beckmann; Laureane Mittaz; Diana Ballhausen; Andrea Superti-Furga; Ravi Savarirayan; Luisa Bonafe

Journal article

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxova, Karl-Henrik Gustavson, Zvi U Borochowitz, A Micheil Innes, Sheila Unger, Jacques S Beckmann, Laureane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafe

American Journal of Human Genetics | CELL PRESS | Published : 2009

DOI: 10.1016/j.ajhg.2009.05.002

University of Melbourne Researchers

Tiong Yang Tan Author Paediatrics Royal Children's Hospital

John Bateman Author Paediatrics Royal Children's Hospital

Ravi Savarirayan Author Paediatrics Royal Children's Hospital

Grants

Awarded by Swiss National Research Foundation

Funding Acknowledgements

We are grateful to the affected individuals and their families for their cooperation. We thank Carole Chiesa for excellent technical assistance, Trevor Cameron for cartilage RNA isolation, and Peter Farlie for help with immunohistochemistry. This work was supported by the Swiss National Research Foundation, grant no. 320000-116S06, to L.B. and by an Australian Research Council Discovery grant to J.B.