Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

The generation and homeostasis of bone tissue throughout development and maturity is controlled by the carefully balanced processes of bone formation and resorption. Disruption of this balance can give rise to a broad range of skeletal pathologies. Lethal osteosclerotic bone dysplasia (or, Raine syn...

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Hauptverfasser: Simpson, M. A. , Hsu, R. , Keir, L. S. , Hao, J. , Sivapalan, G. , Ernst, L. M. , Zackai, E. H. , Al-Gazali, L. I. , Hulskamp, G. , Kingston, H. M. , Prescott, T. E. , Ion, A. , Patton, M. A. , Murday, V. , George, A. , Crosby, A. H. 
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Human Genetics 2007
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2265657/
https://ncbi.nlm.nih.gov/pubmed/17924334
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