Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights

ObjectivePseudohypoparathyroidism type 1B (PHP1B), caused by abnormal methylation of the GNAS gene leading to parathyroid hormone (PTH) resistance, lacks Albright hereditary osteodystrophy features and is often misdiagnosed. PHP1B and Gitelman syndrome (GS) share overlapping features, including hypo...

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Bibliographic Details
Main Authors: Yiming Zhao, Lijun Mou, Oumayma Akaaboune, Jiudan Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1638472/full
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