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SAT-343 Diagnosis and Management of Pseudohypoparathyroidism Type 1B

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by end-organ resistance to PTH. Most subtypes are caused by pathogenic variants or epigenetic alterations in GNAS, which encodes the alpha subunit of the G protein regulating end-organ response to PTH. PHP...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: Tahata, Shawn, Kohlenberg, Jacob, Clarke, Bart Lyman
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208951/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.288
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