Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SM...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Lee, Chae Syng, Fu, He, Baratang, Nissan, Rousseau, Justine, Kumra, Heena, Sutton, V. Reid, Niceta, Marcello, Ciolfi, Andrea, Yamamoto, Guilherme, Bertola, Débora, Marcelis, Carlo L., Lugtenberg, Dorien, Bartuli, Andrea, Kim, Choel, Hoover-Fong, Julie, Sobreira, Nara, Pauli, Richard, Bacino, Carlos, Krakow, Deborah, Parboosingh, Jillian, Yap, Patrick, Kariminejad, Ariana, McDonald, Marie T., Aracena, Mariana I., Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Lu, James T., Cohn, Dan H., Tartaglia, Marco, Lee, Brendan H., Reinhardt, Dieter P., Campeau, Philippe M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673654/
https://ncbi.nlm.nih.gov/pubmed/29100092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.019
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