Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort-Reference-Cited by-同舟云学术

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort

Published:2020-06-12 Issue:4 Volume:93 Page:409-418
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Mariathasan Sashi¹,Andrews Katrina A.²,Thompson Edward³,Challis Ben G.¹⁴^ORCID,Wilcox Sarah²,Pierce Heather²,Hale Julia¹,Spiden Sarah³,Fuller Gavin³,Simpson Helen L.⁵,Fish Brian⁶,Jani Piyush⁶,Seetho Ian⁷,Armstrong Ruth²,Izatt Louise⁸,Joshi Mamta⁹,Velusamy Anand⁹,Park Soo‐Mi²,Casey Ruth T.¹¹⁰^ORCID

Affiliation:

1. Department of Endocrinology Cambridge University Hospital NHS Foundation Trust Cambridge UK

2. Department of Clinical Genetics Cambridge University Hospital NHS Foundation Trust Cambridge UK

3. East Midlands and East of England NHS Genomic Laboratory Hub Cambridge University Hospital NHS Foundation Trust Cambridge UK

4. Translational Science & Experimental Medicine, Research and Early Development Cardiovascular, Renal and Metabolism BioPharmaceuticals R&D AstraZeneca Cambridge UK

5. Department of Endocrinology University College Hospital London UK

6. Department of Head and Neck Surgery Cambridge University Hospital NHS Foundation Trust Cambridge UK

7. Department of Endocrinology Northwick Park Hospital London North West University Hospital NHS Trust London UK

8. Department of Clinical Genetics Guy's and St Thomas' NHS Foundation Trust London UK

9. Department of Endocrinology Guy's and St Thomas' NHS Foundation Trust London UK

10. Department of Medical Genetics Cambridge University Cambridge UK

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14254

Reference23 articles.

1. Epidemiology of primary hyperparathyroidism in Europe;Adami S;J Bone Miner Res [Internet],2002

2. Genetics of parathyroid tumours

3. A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

4. Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association

5. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors

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