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
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