The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

Frank-Ter Haar syndrome (FTHS, MIM #249420) is a rare skeletal dysplasia within the defective collagen remodelling spectrum (DECORS), which is characterised by craniofacial abnormalities, skeletal malformations and fibrotic soft tissues changes including dermal fibrosis and joint contractures. FTHS...

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Bibliographic Details
Main Authors: de Vos, Ivo J. H. M., Wong, Arnette Shi Wei, Taslim, Jason, Ong, Sheena Li Ming, Syder, Nicole C., Goggi, Julian L., Carney, Thomas James, van Steensel, Maurice A. M.
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Journal Article
Language:English
Published: 2021
Subjects:
Science::Medicine
FTHS
SH3PXD2B
Online Access:https://hdl.handle.net/10356/146674

Internet

https://hdl.handle.net/10356/146674

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