Abstract:Collagen XII-related disorders (COLXII-RD) are a heterogenous group of disorders with overlapping symptoms involving both connective tissue and muscle, clinically manifesting with hyperlaxity, contractures, and weakness of variable clinical severity. Biallelic loss-of-function (LOF), as well as dominantly acting variants in COL12A1 , have been recognized to cause COLXII-RD, with the disease severity being notably more severe in patients with recessive LOF COLXII-RD. While additional dominant cases have now bee… Show more
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