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Article

GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.

JCI insight - 8 Mar 2024

Iwasaki Yorihiro, Reyes Monica, Jüppner Harald, Bastepe Murat

Abstract excerpt

Pseudohypoparathyroidism type 1B (PHP1B) results from aberrant genomic imprinting at the GNAS gene. Defining the underlying genetic cause in new patients is challenging because various genetic alterations (e.g., deletions, insertions) within the GNAS genomic region, including the neighboring STX16 gene, can cause PHP1B, and the genotype-epigenotype correlation has not been clearly established. Here, by analyzing...

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Identifiers

PMID: 38290008
DOI: 10.1172/jci.insight.177190
PMCID: PMC10972583

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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