Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.

The Journal of clinical endocrinology and metabolism - 1 Jan 2018

Salemi Parissa, Skalamera Olson Julie M, Dickson Lauren E, Germain-Lee Emily L

Abstract excerpt

Context: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the parental origin of the mutated allele, patients develop either pseudohypoparathyroidism type 1A (PHP1A), with multihormone resistance and severe obesity, or pseudopseudohypoparathyroidism (PPHP), without hormonal abnormalities or marked obesity. Subcutaneous ossifications (SCOs) are a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Body Mass Index
Share to Chromogranins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Hormones

Share to Inheritance Patterns

Share to Osteogenesis

Share to Pseudohypoparathyroidism

Share to Sex Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 29059381
DOI: 10.1210/jc.2017-00860
PMCID: PMC5761497

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.PMID 29059381Read ↗

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.Semantic proximity Read ↗

Heterotopic Ossifications in a Mouse Model of Albright Hereditary OsteodystrophySemantic proximity Read ↗

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

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

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.Semantic proximity Read ↗

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

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

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.Semantic proximity Read ↗

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic reviewSemantic proximity Read ↗

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

Progressive osseous heteroplasia: diagnosis, treatment, and prognosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.