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

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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Bibliographic Details
Main Authors:	Bastepe, M. (Author), Hamasaki, A. (Author), Honjo, S. (Author), Iwasaki, K. (Author), Iwasaki, Y. (Author), Keidai, Y. (Author)
Format:	Article
Language:	English
Published:	Endocrine Society 2022
Subjects:	adult Adult case report chromogranin Chromogranins Diseases in Twins DNA methylation DNA Methylation drug effect female Female genetics genome imprinting Genomic Imprinting GNAS GNAS protein, human GTP-Binding Protein alpha Subunits, Gs Heterodisomy human Humans Hypocalcemia Imprinting disorder monozygotic twins Monozygotic twins pedigree Pedigree pseudohypoparathyroidism Pseudohypoparathyroidism Sporadic pseudohypoparathyroidism 1B stimulatory guanine nucleotide binding protein twins Twins, Monozygotic whole genome sequencing Whole Genome Sequencing
Online Access:	View Fulltext in Publisher

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