Familial hypocalciuric hypercalcaemia type 1 due to a rare CASR missense mutation: a delayed diagnosis in a man with chronic hypercalcaemia.
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| Title: | Familial hypocalciuric hypercalcaemia type 1 due to a rare CASR missense mutation: a delayed diagnosis in a man with chronic hypercalcaemia. |
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| Authors: | Mon HY; Medicine, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK., Win NN; Medicine, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK., Oyibo SO; Diabetes and Endocrinology, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK samoyibo@yahoo.co.uk. |
| Source: | BMJ case reports [BMJ Case Rep] 2025 Sep 09; Vol. 18 (9). Date of Electronic Publication: 2025 Sep 09. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1757-790X |
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| DOI: | 10.1136/bcr-2025-266308 |
