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

A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report.

The Journal of international medical research - 1 Jan 2026

Cao Xueqin, Zhu Yuzhu, Sun Rong, Sun Hong

Abstract excerpt

Hypoparathyroidism is a rare endocrine condition characterized by insufficient secretion of parathyroid hormone (PTH), resulting in abnormally low calcium levels (hypocalcemia) and elevated phosphate levels (hyperphosphatemia) in the blood. This report describes a man in his late 30s with a chronic skin condition marked by dryness and desquamation. He occasionally experienced mild perioral numbness. Over the past...

Read the complete abstract on PubMed

Topics

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

Share to Calcitriol
Share to Calcium
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypocalcemia

Share to Hypoparathyroidism

Share to Mutation

Share to Parathyroid Hormone

Share to Receptor, Fibroblast Growth Factor, Type 1

Source

Open in PubMed Open full text

Identifiers

PMID: 41521147
DOI: 10.1177/03000605251410786
PMCID: PMC12791217

Genes

FGFR1
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report.PMID 41521147Read ↗

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.Semantic proximity Read ↗

DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.Semantic proximity Read ↗

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.Semantic proximity Read ↗

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.Semantic proximity Read ↗

A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.Semantic proximity Read ↗

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome.Semantic proximity Read ↗

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.Semantic proximity Read ↗

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.Semantic proximity Read ↗

Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.Semantic proximity Read ↗

Recombinant human parathyroid hormone therapy (1-34) in an adult patient with a gain-of-function mutation in the calcium-sensing receptor-a case report.Semantic proximity Read ↗

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.Semantic proximity Read ↗

Identification of a novel PTH1R variant in a family with primary failure of eruption.Semantic proximity Read ↗

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