Familial Isolated Hyperparathyroidism
What's New
Last Posted: Dec 29, 2023
- GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.
Auryan Szalat, et al. Frontiers in endocrinology 2023 0 1254156 - Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.
Guan Bin, et al. Journal of the Endocrine Society 2017 0 (5) 488-499 - Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
El Lakis Mustapha, et al. Surgery 2017 0 (1) 31-34 - Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
Pardi Elena, et al. PloS one 2017 0 (10) e0186485 - Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
Guarnieri Vito, et al. BMC medical genetics 2017 0 (1) 83 - UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.
Romanet Pauline, et al. The Journal of clinical endocrinology and metabolism 2018 0 (3) 753-764 - Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up?
Saponaro Federica, et al. The Journal of clinical endocrinology and metabolism 2021 0 (11) e4565-e4579 - Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park Hye-Sun, et al. Frontiers in endocrinology 2022 0 853171 - GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze Sarah, et al. The Journal of clinical endocrinology and metabolism 2021 0 (5) e2021-e2026 - Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff Lucie, et al. European journal of endocrinology 2022 0 (3) 351-366
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
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- Graves Disease
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- Phenylketonuria
- Retinitis Pigmentosa
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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