Article
Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.
PLoS genetics - 25 Jul 2008
Clément Aurélie, Wiweger Malgorzata, von der Hardt Sophia, Rusch Melissa A, Selleck Scott B, Chien Chi-Bin, Roehl Henry H
Abstract excerpt
Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we show that two zebrafish mutants, dackel (dak) and pinscher (pic), have cartilage defects that strongly resemble those seen in HME patients. We have previously...
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