Evidence map›Paper›PMID 39822657›Full record

ArticleJCEM case reports2025

Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel

Anisley Valenciaga, Pamela Brock, Benjamin O'Donnell, Steven W Ing

Abstract readCase Reports
In one paragraph

Article in JCEM case reports, 2025. 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. De Novo HeterozygousInternational journal of molecular sciences · 2025
    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

4 authors.

Anisley ValenciagaDivision of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center, Columbus, OH 43210, USA.ORCID https://orcid.org/0000-0003-0600-3918
Pamela BrockDepartment of Internal Medicine, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center, Columbus, OH 43210, USA.ORCID https://orcid.org/0000-0002-1549-5363
Benjamin O'DonnellDivision of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center, Columbus, OH 43210, USA.ORCID https://orcid.org/0000-0001-8088-0754
Steven W IngDivision of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center, Columbus, OH 43210, USA.ORCID https://orcid.org/0000-0002-4343-6723

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (

Indexed as

Barakat syndromeGATA3 variantHDR syndromehypoparathyroidism

Identifiers

PMID39822657
PMCPMC11735463

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.