Evidence map›Paper›PMID 34169121›Full record

ArticleBone reports2021

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.

Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Bone reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 39% of its field
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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
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

9 authors at 5 institutions in 1 country.

Marion Aubert-MuccaDepartment of Medical Genetics, Toulouse University Hospital, Toulouse, France.
Charlotte DubucsDepartment of Medical Genetics, Toulouse University Hospital, Toulouse, France.
Marion GroussollesDepartment of Obstetrics and Gynecology, Toulouse University Hospital, Toulouse, France.
Julie VialDepartment of Radiology, Children's University Hospital, Toulouse, France.
Edouard Le GuillouDepartment of Genetic and Molecular Biology, Cochin Hospital, AP-HP Centre-Université de Paris, Paris, France.
Valerie Porquet-BordesEndocrine, Bone Diseases, and Genetics Unit, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, Toulouse, France.
Eric PasmantDepartment of Genetic and Molecular Biology, Cochin Hospital, AP-HP Centre-Université de Paris, Paris, France.
Jean-Pierre SallesEndocrine, Bone Diseases, and Genetics Unit, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, Toulouse, France.
Thomas EdouardEndocrine, Bone Diseases, and Genetics Unit, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, Toulouse, France.
Centre Hospitalier Universitaire de Toulouse · FRHôpital Cochin · FRHôpital des Enfants · FRSorbonne Paris Cité · FRUniversité de Toulouse · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLoss-of-function variants in the calcium-sensing receptor ( CASE PRESENTATION: We describe the antenatal presentation of a male with short ribs, initially suspected having skeletal ciliopathy. At birth, he presented with NSHPT linked to the pathogenic heterozygous DISCUSSION: An exhaustive literature review permits a comparison with all reported cases of Arg185Gln and to hypothesize that cinacalcet efficacy depends on

Indexed as

CalcimimeticsCalcium-sensing receptorFamilial hypocalciuric hypercalcemiaNeonatal severe hyperparathyroidism

Identifiers

PMID34169121
PMCPMC8209172
OpenAlexW3167828217

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.