March 8, 2019
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The presence of multiple exostoses due to mutation of the EXT1 gene has been described in a family. There are few isolated reports of extrarenal involvement in patients with type III collagen glomerulopathy, suggesting that the renal lesion may be part of systemic disease in some patients.
Cohen AH. Collagen Type III Glomerulopathies. Adv Chronic Kidney Dis. 2012;19(2):101-6.
Roberts IS, Gleadle JM. Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation. J Am Soc Nephrol. 2008;19:450-453