Evidence mapPaperPMID 41018172Full record

ArticleJCEM case reports2025

Targeted Gene Sequencing in a Male Adult Diagnosed With X-Linked Osteoporosis Due to a Novel p.(Arg398Profs*2)

Sylvia Ye, Tashunka Taylor-Miller, Vivian Grill, Peter R Ebeling, Hanh H Nguyen

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. 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

5 authors.

Sylvia YeDepartment of Endocrinology and Diabetes, Western Health, Melbourne, VIC 3021, Australia.ORCID https://orcid.org/0000-0002-4001-7400
Tashunka Taylor-MillerDepartment of Genomic Medicine, The Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.ORCID https://orcid.org/0000-0002-7287-6496
Vivian GrillDepartment of Endocrinology and Diabetes, Western Health, Melbourne, VIC 3021, Australia.
Peter R EbelingDepartment of Medicine, School of Clinical Sciences, Monash University, Clayton, VIC 3800, Australia.
Hanh H NguyenDepartment of Endocrinology and Diabetes, Western Health, Melbourne, VIC 3021, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic loss-of-function variants in the plastin-3 gene (

Indexed as

monogenic early-onset osteoporosisPLS3X-linked osteoporosis

Identifiers

PMID41018172
PMCPMC12461571

What Socratic 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 Socratic graph.