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Article

GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Sept 2012

Mantovani G, Elli F M, Spada A

Abstract excerpt

Pseudohypoparathyroidism-Ia and -Ib (PHP-Ia and -Ib) are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO), together with resistance to the action of different hormones that activate the Gs-coupled pathway. In PHP-Ib patients AHO is classically absent and hormone resistance is limited to PTH and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22674477
DOI: 10.1055/s-0032-1314842

Genes

GNAS
PTH
STX16

Provenance

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GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?PMID 22674477Read ↗

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