Evidence map›Paper›PMID 36974356›Full record

ArticleJournal of clinical research in pediatric endocrinology2025

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus

Gönül Büyükyılmaz, Büşra Erozan Çavdarlı, Keziban Toksoy Adıgüzel, Mehmet Adıgüzel, Çiğdem Seher Kasapkara, Fatih Gürbüz, Mehmet Boyraz, Esra Gürkaş

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 2025. 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 38% 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. A Chinese patient withFrontiers in neurology · 2023
    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

8 authors at 3 institutions in 1 country.

Gönül BüyükyılmazAnkara Bilkent City Hospital, Clinic of Pediatric Endocrinology, Ankara, TürkiyeORCID 0000-0001-7888-7295
Büşra Erozan ÇavdarlıAnkara Bilkent City Hospital, Clinic of Medical Genetics, Ankara, TürkiyeORCID 0000-0002-0953-6210
Keziban Toksoy AdıgüzelAnkara Bilkent City Hospital, Clinic of Pediatric Endocrinology, Ankara, TürkiyeORCID 0000-0003-1606-4781
Mehmet AdıgüzelAnkara University Faculty of Medicine, Department of Radiology, Ankara, TürkiyeORCID 0000-0001-5453-8621
Çiğdem Seher KasapkaraAnkara Yıldırım Beyazıt University Faculty of Medicine, Department of Pediatric Metabolism and Nutrition, Ankara, TürkiyeORCID 0000-0002-3569-276X
Fatih GürbüzAnkara Yıldırım Beyazıt University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, TürkiyeORCID 0000-0003-2160-9838
Mehmet BoyrazAnkara Yıldırım Beyazıt University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, TürkiyeORCID 0000-0002-4289-9128
Esra GürkaşAnkara Yıldırım Beyazıt University Faculty of Medicine, Department of Pediatric Neurology, Ankara, TürkiyeORCID 0000-0003-3942-5105
Ankara Yıldırım Beyazıt University · TRAnkara University · TRMemorial Ankara Hospital · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

4H syndrome is a rare, progressive, hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the three classic features of 4H syndrome. Biallelic pathogenic variants in

Indexed as

AnodontiaDemyelinating DiseasesDiabetes Mellitus, Type 1HypogonadismRNA Polymerase IIIAdolescentHumansMutationPOLR3A protein, humanRNA Polymerase III4H leukodystrophyhypogonadotropic hypogonadismPOLR3Atype 1 diabetes mellitus

Identifiers

PMID36974356
PMCPMC11923466
OpenAlexW4361190401

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.