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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
Fag:
Report
Online adgang: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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