Evidence map›Paper›PMID 40103355›Full record

ReviewJournal of clinical research in pediatric endocrinology2026

Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder

Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Aynur Bedel, Kürşat Çetin, Belgin Akcan Paksoy, Tarkan Kalkan, Halide Akbaş, Hale Ünver Tuhan, Mesut Parlak

Abstract readCase ReportsReview
In one paragraph

Review 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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 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

10 authors.

Berna SinginAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0002-2204-5336
Zeynep DonbaloğluAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0003-0605-3229
Ebru Barsal ÇetinerAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0002-1888-919X
Aynur BedelAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0001-6074-7606
Kürşat ÇetinAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0002-9022-4010
Belgin Akcan PaksoyAkdeniz University Faculty of Medicine, Department of Pediatric Metabolic Diseases, Antalya, TürkiyeORCID 0009-0008-5693-1118
Tarkan KalkanUniversity of Health Sciences Türkiye, Antalya Training and Research Hospital, Clinic of Molecular Genetics, Antalya, TürkiyeORCID 0000-0001-5061-7306
Halide AkbaşAkdeniz University Faculty of Medicine, Department of Medical Biochemistry, Antalya, TürkiyeORCID 0000-0002-7849-6531
Hale Ünver TuhanAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0002-7637-9630
Mesut ParlakAkdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, TürkiyeORCID 0000-0002-3550-1425

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Xp21 contiguous gene deletion syndrome is an uncommon genetic condition associated with complex glycerol kinase deficiency (

Indexed as

Adrenal InsufficiencyChromosomes, Human, XGene DeletionGenetic Diseases, X-LinkedGlycerol KinaseMuscular Dystrophy, DuchenneRare DiseasesDAX-1 Orphan Nuclear ReceptorFemaleHumansMaleDAX-1 Orphan Nuclear ReceptorGlycerol KinaseNR0B1 protein, humanComplex glycerol kinase deficiencycongenital adrenal hypoplasiaDuchenne muscular dystrophyglycerol kinase deficiencypseudo-hypertriglyceridemia

Identifiers

PMID40103355
PMCPMC13197103

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.