Evidence map›Paper›PMID 38212959›Full record

ArticleJournal of clinical research in pediatric endocrinology2026

Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants

Fatma Güliz Atmaca, Özlem Akgün Doğan, Büşra Kutlubay, Heves Kırmızıbekmez

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

Article in Journal of clinical research in pediatric endocrinology, 2026. 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
0.5field-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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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 at 1 institution in 1 country.

Fatma Güliz AtmacaUniversity of Health Sciences Türkiye, Ümraniye Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, TürkiyeORCID 0000-0003-2678-3886
Özlem Akgün DoğanUniversity of Health Sciences Türkiye, Ümraniye Training and Research Hospital, Clinic of Pediatric Genetics, İstanbul, TürkiyeORCID 0000-0002-8310-4053
Büşra KutlubayUniversity of Health Sciences Türkiye, Ümraniye Training and Research Hospital, Clinic of Pediatric Neurology, İstanbul, TürkiyeORCID 0000-0002-6216-1438
Heves KırmızıbekmezUniversity of Health Sciences Türkiye, Ümraniye Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, TürkiyeORCID 0000-0002-8663-3452
Ümraniye Eğitim ve Araştırma Hastanesi · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Schwartz-Jampel syndrome (SJS) type 1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS type 1 develops due to variations in the

Indexed as

Heparan Sulfate ProteoglycansOsteochondrodysplasiasChildFemaleGrowth DisordersHeterozygoteHumansMyotonic DisordersHeparan Sulfate ProteoglycansperlecanHSPG2 genemyotoniashort statureskeletal dysplasia

Identifiers

PMID38212959
PMCPMC12989914
OpenAlexW4390794725

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.