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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.
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
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Mon+HY%22">Mon HY</searchLink>; Medicine, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK.<br /><searchLink fieldCode="AU" term="%22Win+NN%22">Win NN</searchLink>; Medicine, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK.<br /><searchLink fieldCode="AU" term="%22Oyibo+SO%22">Oyibo SO</searchLink>; Diabetes and Endocrinology, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK samoyibo@yahoo.co.uk.
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  Data: <searchLink fieldCode="JN" term="%22101526291%22">BMJ case reports</searchLink> [BMJ Case Rep] 2025 Sep 09; Vol. 18 (9). <i>Date of Electronic Publication: </i>2025 Sep 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BMJ+Pub%2E+Group%22">BMJ Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101526291 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1757-790X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221757790X%22">1757790X </searchLink><i>NLM ISO Abbreviation: </i>BMJ Case Rep <i>Subsets: </i>MEDLINE
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1136/bcr-2025-266308
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      – Code: eng
        Text: English
    Titles:
      – TitleFull: Familial hypocalciuric hypercalcaemia type 1 due to a rare CASR missense mutation: a delayed diagnosis in a man with chronic hypercalcaemia.
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Mon HY
      – PersonEntity:
          Name:
            NameFull: Win NN
      – PersonEntity:
          Name:
            NameFull: Oyibo SO
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          Dates:
            – D: 09
              M: 09
              Text: 2025 Sep 09
              Type: published
              Y: 2025
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            – Type: issn-electronic
              Value: 1757-790X
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              Value: 18
            – Type: issue
              Value: 9
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            – TitleFull: BMJ case reports
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