Evidence map›Paper›PMID 33062349›Full record

ArticleCase reports in endocrinology2020

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.

Sachin K Majumdar, Tess Jacob, Allen Bale, Allison Bailey, Jeffrey Kwon, Terence Hughes, Andrea L Barbieri, William Laskin, Paul Cohen, Tobias John Eric Carling

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

Article in Case reports in endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

10 authors.

Sachin K MajumdarDepartment of Endocrinology, Bridgeport Hospital, Yale New Haven Health System, Bridgeport, CT, USA.ORCID https://orcid.org/0000-0003-0997-3098
Tess JacobDepartment of Internal Medicine, Bridgeport Hospital, Yale New Haven Health System, Bridgeport, CT, USA.
Allen BaleDepartment of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Allison BaileyDepartment of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Jeffrey KwonDepartment of Internal Medicine, Bridgeport Hospital, Yale New Haven Health System, Bridgeport, CT, USA.
Terence HughesDepartment of Radiology, Bridgeport Hospital, Yale New Haven Health System, Bridgeport, CT, USA.
Andrea L BarbieriDepartment of Pathology, Yale University School of Medicine, New Haven, CT, USA.
William LaskinDepartment of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Paul CohenDepartment of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Tobias John Eric CarlingSection of Endocrine Surgery, Department of Surgery, Yale University School of Medicine, New Haven, CT, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively. The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging.

Identifiers

PMID33062349
PMCPMC7555459

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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.