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Article

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.

Italian journal of pediatrics - 23 Jul 2022

Zhou Qing, Liang Bin, Fu Qing-Xian, Liu Hui, Zou Chao-Chun

Abstract excerpt

BACKGROUND: Albright's hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to pseudo-pseudohypoparathyroidism (PPHP) when it is paternally inherited. We describe the clinical and biochemical characteristics of two patients, a boy and his...

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Identifiers

PMID: 35871092
DOI: 10.1186/s13052-022-01322-6
PMCID: PMC9308320

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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