Digenic variants in fibroblast growth factor 21 signaling linked to severe insulin resistance

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Stone lab research was highlighted in Endocrine News. “We found that the proband carried mutations in the FGF21 receptor complex and performed tissue culture-based studies to demonstrate that these were functional/pathogenic mutations,” Stephen Stone, MD tells Endocrine News. “This study demonstrates the first ever link between FGF21 and severe insulin resistance.”