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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...
Autores principales: | Keidai, Yamato, Iwasaki, Yorihiro, Iwasaki, Kanako, Honjo, Sachiko, Bastepe, Murat, Hamasaki, Akihiro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
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 |
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