GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

ContextA germline mutation can be identified in up to 10% of patients with primary hyperparathyroidism (PHPT). In 2017, a high frequency of the GCM2 [(NM_ 004752.4) c.1181A> C; p.Tyr394Ser; rs142287570] variant was reported in PHPT Ashkenazi Jews (AJ).ObjectiveTo evaluate the presence of the...

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Bibliographic Details
Main Authors: Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Meiner
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Endocrinology
Subjects:
primary hyperparathyroidism
gcm2
familial hypocalciuric hypercalcemia
calcium-sensing receptor
AP2S1
parathyroid
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1254156/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1254156/full

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