Sporadic Pseudohypoparathyroidism 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects

Background: Pseudohypoparathyroidism (PHP) 1B is an imprinting disorder characterized by renal resistance to parathyroid hormone (PTH) without Albright Hereditary Osteodystrophy (AHO). PHP1B is associated with methylation defects at the GNAS differentially methylated regions (DMRs). In sporadic case...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Keidai, Yamato, Iwasaki, Yorihiro, Iwasaki, Kanako, Honjo, Sachiko, Bastepe, Murat, Hamasaki, Akihiro
Format: Artigo
Language:Inglês
Published: Oxford University Press 2021
Subjects:
Bone and Mineral Metabolism
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089253/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.455
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