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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Detalles Bibliográficos
Autores principales: Keidai, Yamato, Iwasaki, Yorihiro, Iwasaki, Kanako, Honjo, Sachiko, Bastepe, Murat, Hamasaki, Akihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Bone and Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089253/
http://dx.doi.org/10.1210/jendso/bvab048.455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089253/
http://dx.doi.org/10.1210/jendso/bvab048.455

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