Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression.HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1qHyperparathyroidism-jaw tumor syndrome: Results of operative management.Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome.HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome.Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome.Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor SyndromePrimary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis.Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review.A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function.Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature.A Case of Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing.Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.Hyperparathyroidism-jaw tumor syndrome.Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia.Hyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion.Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
P921
Q24563738-FA8A699B-3692-4B9D-A329-09EF93FD29B1Q24672747-1BE9E7D0-54BC-4800-918D-99B0707CECC9Q33209570-5E56B393-26AF-400E-B6D6-79395FDA600FQ34159232-78309822-70B3-488C-B6E9-535AB0AEFE4EQ34289020-BDE9A995-E518-4F16-89ED-1F5925A2E833Q34308906-4F9C170B-7807-43B2-A3A1-8FB13F0295EDQ34308909-527BF35D-57EF-46C2-B114-4BDFF9226FCCQ34388883-C34D993C-466A-49CA-BCD3-1419761D9DC6Q34630850-9B878734-C1E7-4847-8D0C-96123D598DBDQ34993892-640834B6-CF63-4CAD-B308-7AFFC391A8C6Q35972332-E53DFB9B-CC9D-46A7-BD13-BC76530A87D2Q36185320-9FE071F9-3616-4DF0-9D8F-FCB6F8115576Q36382995-57BC97A6-EA4A-4D15-8279-8D8418A22FF9Q36442958-90004F34-D536-47B2-8C30-85C9BA7B8BA1Q37281220-49CDD3F0-3B05-4261-ADE3-16DB7A0B62C4Q37417485-3963379D-F73A-4E33-B831-B7939A72AC6CQ38289785-C5E790CA-AD13-4768-A7F6-BA6C86E318E9Q38515604-57D7A96F-E37F-4D12-A68B-0D2CB03A6935Q40168423-077DC731-724D-48D5-BC00-51761BECAF9AQ42269577-8FEC80D8-E51A-419A-B96B-4DE804C76D73Q47547675-75D3460A-5F87-415A-BF1A-F5C797E3EB50Q47790702-F8D1A9E4-2E63-4916-8B7D-50B3A7E53D4EQ47799160-B3F1490F-A8E6-4941-A67B-37650A0B23EBQ48005651-AA6D05D2-9648-4DFE-B7E7-4ABEE6E43EF4Q51483082-5FD076E3-D723-4386-ABC1-9BD34D658E8EQ52741457-FBBD1921-350F-4E5E-9B6C-C9E2FFF4EEC8Q53350124-2C94D065-53EF-4FEC-BBC6-30A4928B805B
P921
name
Zespół nadczynności przytarczyc i guza szczęki lub żuchwy
@pl
hyperparathyroidism-jaw tumor syndrome
@en
syndrome d'hyperparathyroïdie-tumeur mandibulaire
@fr
type
label
Zespół nadczynności przytarczyc i guza szczęki lub żuchwy
@pl
hyperparathyroidism-jaw tumor syndrome
@en
syndrome d'hyperparathyroïdie-tumeur mandibulaire
@fr
altLabel
HPT-JT
@pl
prefLabel
Zespół nadczynności przytarczyc i guza szczęki lub żuchwy
@pl
hyperparathyroidism-jaw tumor syndrome
@en
syndrome d'hyperparathyroïdie-tumeur mandibulaire
@fr
P1550
P31
P4317
P492
P7464
hyperparathyroidism-jaw-tumor-syndrome