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Article

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.

Clinical epigenetics - 1 Jan 2018

Elli Francesca Marta, Bordogna Paolo, Arosio Maura, Spada Anna, Mantovani Giovanna

Abstract excerpt

Background: Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in early embryonic maintenance of methylation. Previous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29445425
DOI: 10.1186/s13148-018-0449-4
PMCID: PMC5801752

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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