< em > GCM2 < /em > p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

CONCLUSION: In contrast to previous observations, the GCM2 p.Tyr394Ser variant-associated phenotype may be mild in AJ with FIHP, sometimes mimicking FHH. Because surgery may be curative, surgeons should be aware of the possibility of multiple gland diseases in these patients. The clinical spectrum and clinical utility of screening for this variant warrant further investigation.PMID:38130397 | PMC:PMC10733520 | DOI:10.3389/fendo.2023.1254156

Source: Atherosclerosis - December 22, 2023 Category: Cardiology Authors: Auryan Szalat Shoshana Shpitzen Rena Pollack Haggi Mazeh Ronen Durst Vardiella Meiner Source Type: research