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

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

The Journal of clinical endocrinology and metabolism - 1 Apr 2004

Cavaco Branca M, Guerra Laura, Bradley Karin J, Carvalho Davide, Harding Brian, Oliveira Amélia, Santos Maria-Amparo, Sobrinho Luís G, Thakker Rajesh V, Leite Valeriano

Abstract excerpt

The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors and ossifying jaw fibromas. The gene causing HPT-JT, HRPT2, is located on chromosome 1q31.2 and consists of 17 exons that encode a 531-amino acid protein, designated parafibromin. We recently identified six Roma families in Portugal with 56 members (11 affected and 45...

Read the complete abstract on PubMed

Topics

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

Share to Founder Effect
Share to Hyperparathyroidism

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Jaw Neoplasms

Share to Penetrance

Share to Portugal

Share to Sex Characteristics

Share to Syndrome

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 15070940
DOI: 10.1210/jc.2003-031016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.PMID 15070940Read ↗

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.Semantic proximity Read ↗

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.Semantic proximity Read ↗

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.Semantic proximity Read ↗

Frequent Large Germline HRPT2 Deletions in a French National Cohort of Patients With Primary HyperparathyroidismSemantic proximity Read ↗

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindredSemantic proximity Read ↗

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.Semantic proximity Read ↗

HRPT2 gene alterations in ossifying fibroma of the jaws.Semantic proximity Read ↗

Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.Semantic proximity Read ↗

Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene.Semantic proximity Read ↗

Familial isolated primary hyperparathyroidism due to HRPT2 mutation.Semantic proximity Read ↗

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.Semantic proximity Read ↗

Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.Semantic proximity Read ↗

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