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

Regarding Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11, and GATA3 Mutations in Parathyroidology.

Clinical endocrinology - 1 Sept 2026

Sengul Ilker, Sengul Demet

Abstract excerpt

This correspondence critically evaluates the diagnostic and therapeutic paradigms presented by Ekaterina Bibik et al. in their analysis of rare hereditary hypoparathyroidism involving CASR, GNA11, and GATA3 mutations. While the case series provides valuable genomic data, the reported decade-long diagnostic delays-particularly the misidentification of mineral disorders as primary epilepsy-unmask a profound...

Read the complete abstract on PubMed

Topics

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

Share to Chromogranins
Share to GATA3 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CASR gene

Share to GNA11 gene

Share to GTP-Binding Protein alpha Subunits

Share to Hypoparathyroidism

Share to Mutation

Share to Receptors, Calcium-Sensing

Source

Open in PubMed Open full text

Identifiers

PMID: 42272448
DOI: 10.1111/cen.70170
PMCID: PMC13432663

Genes

CASR
GATA3
GNA11
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Regarding Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11, and GATA3 Mutations in Parathyroidology.PMID 42272448Read ↗

Rare Forms of Hereditary Hypoparathyroidism: Delayed Diagnosis Due To Atypical Disease OnsetSemantic proximity Read ↗

Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.Semantic proximity Read ↗

Clinical spectrum and long-term follow-up of non-surgical hypoparathyroidism with novel AIRE and GATA3 variants from India.Semantic proximity Read ↗

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical PerspectiveSemantic proximity Read ↗

Fahr’s syndrome secondary to hypoparathyroidism presenting with paralysis and recurrent seizures: a case reportSemantic proximity Read ↗

Fahr’s syndrome: literature review of current evidenceSemantic proximity Read ↗

Divergent clinical presentations and management of calcium-sensing receptor (CaSR) mutations: a case report.Semantic proximity Read ↗

Seizures in Activating Calcium Sensing Receptor Antibodies Positive Autoimmune Hypoparathyroidism & Preponderance of Steroids Therapy: A Case ReportSemantic proximity Read ↗

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

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.Semantic proximity Read ↗

Heritable forms of primary hyperparathyroidism: a current perspective.Semantic proximity Read ↗

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.Semantic proximity Read ↗

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