Article

Mutations in Fibronectin Dysregulate Chondrogenesis in Skeletal Dysplasia

2023-12-23

Abstract excerpt

Fibronectin (FN) is an extracellular matrix glycoprotein essential for the development and function of major vertebrate organ systems. Mutations in FN result in an autosomal dominant skeletal dysplasia termed corner fracture-type spondylometaphyseal dysplasia (SMDCF). The precise pathomechanisms through which mutant FN induces impaired skeletal development remain elusive. Here, we have generated patient-derived in...

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Literature Corpus work: c5a8bd95-51fe-5429-8dcd-b44f90dde5bd
DOI: 10.1101/2023.12.22.573039

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