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

CONTEXT: Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause, characterized by broad methylation changes in differentially methylated regions (DMRs) of the GNAS gene. OBJECTIVE: This work aims to provide insights into the causative event lea...

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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:
Online Only Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851915/
https://www.ncbi.nlm.nih.gov/pubmed/34741517
http://dx.doi.org/10.1210/clinem/dgab801

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851915/
https://www.ncbi.nlm.nih.gov/pubmed/34741517
http://dx.doi.org/10.1210/clinem/dgab801

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