Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Proteoglycans are a major component of extracellular matrix and contribute to normal embryonic and postnatal development by ensuring tissue stability and signaling functions. We studied five patients with recessive joint dislocations and congenital heart defects, including bicuspid aortic valve (BAV...

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Main Authors: Baasanjav, Sevjidmaa, Al-Gazali, Lihadh, Hashiguchi, Taishi, Mizumoto, Shuji, Fischer, Bjoern, Horn, Denise, Seelow, Dominik, Ali, Bassam R., Aziz, Samir A.A., Langer, Ruth, Saleh, Ahmed A.H., Becker, Christian, Nürnberg, Gudrun, Cantagrel, Vincent, Gleeson, Joseph G., Gomez, Delphine, Michel, Jean-Baptiste, Stricker, Sigmar, Lindner, Tom H., Nürnberg, Peter, Sugahara, Kazuyuki, Mundlos, Stefan, Hoffmann, Katrin
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135799/
https://ncbi.nlm.nih.gov/pubmed/21763480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.05.021
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