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Article

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.

Journal of human genetics - 1 Apr 2012

Izzi Benedetta, de Zegher Francis, Francois Inge, del Favero Jurgen, Goossens Dirk, Wittevrongel Christine, Thys Chantal, Van Geet Chris, Freson Kathleen

Abstract excerpt

Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22277900
DOI: 10.1038/jhg.2012.1

Genes

GNAS
HDAC4
STX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22277900-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.PMID 22277900Read ↗

Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.Semantic proximity Read ↗

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

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Semantic proximity Read ↗

Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.Semantic proximity Read ↗

Different AHO phenotype in a Chinese family with a novel GNAS missense mutation: a case reportSemantic proximity Read ↗

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?Semantic proximity Read ↗

GNAS Spectrum of Disorders.Semantic proximity Read ↗

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.Semantic proximity Read ↗

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.Semantic proximity Read ↗

Genetic Evidence Linking the Promoter Region and 5'-UTR Deletion of GNAS with Pseudohypoparathyroidism Type 1CSemantic proximity Read ↗

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Semantic proximity Read ↗

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