Evidence map›Paper›PMID 41878155›Full record

ArticleMolecular syndromology2026

Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

Duygu Deligozoglu, Aslý Genc, Esra Kýlýc, Derya Tepe, Pýnar Kocaay

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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.

Duygu DeligozogluDepartment of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Turkey.
Aslý GencDepartment of Pediatric Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.
Esra KýlýcDepartment of Pediatric Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.
Derya TepeDepartment of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Turkey.
Pýnar KocaayDepartment of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Diets-Jongmans syndrome (DIJOS) is a rare neurodevelopmental disorder associated with heterozygous variants in Case Presentation: We report an 8-year-old girl who presented with short stature, micrognathia, a pointed chin, and mild developmental delay. Exome sequencing revealed a novel likely pathogenic heterozygous nonsense variant, Conclusion: This case represents the first molecularly confirmed DIJOS patient from Turkey and adds further clinical observations regarding growth hormone deficiency in a patient with DIJOS.

Indexed as

Diets-Jongmans syndromeGrowth hormone deficiencyIntrafamilial variabilityKDM3BShort stature

Identifiers

PMID41878155
PMCPMC13008413

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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.