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

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review

14 Oct 2023

Abstract excerpt

BACKGROUND: Pseudohypoparathyroidism type 1a (PHP1a) is a rare endocrine disease caused by partial defects of the α subunit of the stimulatory Guanosin triphosphate (GTP) binding protein (Gsα) resulting from maternal GNAS gene variation. The clinical manifestations are related to PTH resistance (hypocalcemia, hyperphosphatemia, and elevated serum intact PTH) in the presence or absence of multihormone resistance,...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Metabolism and Genetic Disorders
Share to Parathyroid Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37837607
DOI: 10.1093/ejendo/lvad142

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic reviewPMID 37837607Read ↗

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

[Pseudohypoparathyroidism and GNAS gene defects: clinical evaluation and molecular analysis in 20 children].Semantic proximity Read ↗

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

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Semantic proximity Read ↗

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?Semantic proximity Read ↗

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

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

Familial investigation of two cases of pseudohypoparathyroidism.Semantic proximity Read ↗

Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.Semantic proximity Read ↗

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

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

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

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