Evidence map›Paper›PMID 40978122›Full record

ArticleJBMR plus2025

A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

Martina Laganà, Anna Maria Grieco, Vito Guarnieri, Marco Castori, Riccardo Pracella, Salvatore Giovinazzo, Salvatore Cannavò, Rosaria M Ruggeri

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JBMR plus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Martina LaganàEndocrinology Unit, Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID https://orcid.org/0009-0009-7780-4377
Anna Maria GriecoUOC Genetica Medica, Fondazione Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013 San Giovanni Rotondo (FG), Italy.
Vito GuarnieriUOC Genetica Medica, Fondazione Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013 San Giovanni Rotondo (FG), Italy.
Marco CastoriUOC Genetica Medica, Fondazione Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013 San Giovanni Rotondo (FG), Italy.ORCID https://orcid.org/0000-0002-6069-0993
Riccardo PracellaUOC Genetica Medica, Fondazione Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013 San Giovanni Rotondo (FG), Italy.
Salvatore GiovinazzoEndocrinology Unit, Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Salvatore CannavòEndocrinology Unit, Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Rosaria M RuggeriEndocrinology Unit, Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder caused by inactivating variants of the calcium-sensing receptor gene (

Indexed as

Asymptomatic hypercalcemiacalcium-sensing receptorFamilial hypocalciuric hypercalcemiaGenetichyperparathyroidismParathyroid

Identifiers

PMID40978122
PMCPMC12445840

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.