Biglycan mutations cause X-Linked Spondyloepimetaphyseal Dysplasia

Very interesting indeed………first missense mutations identified in Biglycan, a member of the class I family of small leucine-rich proteoglycans (SLRPs) that is found in the extracellular matrix of bone and cartilage………

biglycan mutations

Could this be another example of a protein misfolding – ER stress related human connective disease……..?

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