Article

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis

2023-05-30

Abstract excerpt

<h4>ABSTRACT</h4> SOX9 is an essential transcriptional regulator of cartilage development and homeostasis. In humans, dysregulation of SOX9 is associated with a wide spectrum of skeletal disorders, including campomelic and acampomelic dysplasia, and scoliosis. The mechanism of how SOX9 variants contribute to the spectrum of axial skeletal disorders is not well understood. Here, we report four novel pathogenic vari...

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Literature Corpus work: 977a89d2-e2ff-5e83-9f5b-889bdb6d6d58
DOI: 10.1101/2023.05.29.23290174

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