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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Dades bibliogràfiques
Publicat a:J Endocr Soc
Autors principals: Keidai, Yamato, Iwasaki, Yorihiro, Iwasaki, Kanako, Honjo, Sachiko, Bastepe, Murat, Hamasaki, Akihiro
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2021
Matèries:
Bone and Mineral Metabolism
Accés en línia: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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