Evidence map›Paper›PMID 37197558›Full record

ArticleTherapeutic advances in rare disease

A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.

Benjamin L Hamel, Seema Kumar, Leah Heidenreich, Avni Joshi, Christiana DaSilva, Faizal Z Asumda

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

Article in Therapeutic advances in rare disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 32% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

6 authors at 2 institutions in 1 country.

Benjamin L HamelDepartment of Pediatrics, Mayo Clinic, Rochester, MN, USA.
Seema KumarDepartment of Endocrinology, Mayo Clinic, Rochester, MN, USA.ORCID https://orcid.org/0000-0001-8004-4924
Leah HeidenreichDepartment of Pediatrics, Mayo Clinic, Rochester, MN, USA.
Avni JoshiDepartment of Immunology, Mayo Clinic, Rochester, MN, USA.
Christiana DaSilvaDepartment of Pediatrics, Sanford Children's Campus, Bismarck, ND, USA.
Faizal Z AsumdaDepartment of Clinical Genetics and Genomics, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA.
Mayo Clinic in Arizona · USMayo Clinic · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are no reported cases of PAX1-associated hypoparathyroidism in humans. We present a case of hypoparathyroidism in a 23-month-old boy with a homozygous pathogenic variant in the PAX1 gene ( Plain language summary:

Indexed as

hypocalcemiahypoparathyroidismPAXPAX1

Identifiers

PMID37197558
PMCPMC10184197
OpenAlexW4323967464

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.