Article
The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome.
Biology open - 29 Dec 2020
de Vos Ivo J H M, Wong Arnette Shi Wei, Taslim Jason, Ong Sheena Li Ming, Syder Nicole C, Goggi Julian L, Carney Thomas J, van Steensel Maurice A M
Abstract excerpt
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 is caused by homozygous or compound heterozygous loss-of-function mutation or deletion of SH3PXD2B (Src homology 3...
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