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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1638472/full |
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