Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

doi:10.1016/j.ajhg.2017.09.019

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Article

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

American journal of human genetics - 2 Nov 2017

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

Abstract excerpt

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 (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate...

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PMID: 29100092
DOI: 10.1016/j.ajhg.2017.09.019
PMCID: PMC5673654

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