Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Gréta Antal, Anna Zsigmond, Ágnes Till, András Szabó, Anita Maász, Judit Bene, Kinga Hadzsiev

Abstract read

In one paragraph

Article in International journal of molecular sciences, 2024. 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

–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

1 citing paper in PubMed.

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.BMC pediatrics · 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

7 authors.

Gréta AntalDepartment of Dentistry, Oral and Maxillofacial Surgery, Clinical Center, Medical School, University of Pécs, 7623 Pécs, Hungary.

Anna ZsigmondDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.

Ágnes TillDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.

András SzabóDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.ORCID 0000-0002-2304-1695

Anita MaászDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.ORCID 0000-0002-5051-7708

Judit BeneDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.ORCID 0000-0001-5757-6244

Kinga HadzsievDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.ORCID 0000-0003-2303-1670

Funding

University of Pécs, Medical School, Research Fund ÁOK-KA-2023-22University of Pécs, Medical School, Research Fund ÁOK-KA-2024-19

6 · The paper itself

Abstract

Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with variable penetrance and high genetic and phenotypic heterogeneity. It is caused by pathogenic variants in the

Indexed as

High-Throughput Nucleotide SequencingMandibulofacial DysostosisMutationAdolescentAdultChildChild, PreschoolDNA-Directed RNA PolymerasesFemaleGenetic HeterogeneityHumansMaleNuclear ProteinsPhenotypePhosphoproteinsYoung AdultDNA-Directed RNA PolymerasesNuclear ProteinsPhosphoproteinsPOLR1D protein, humanTCOF1 protein, humanincomplete penetranceNGSPOLR1DTCOF1Treacher Collins syndromeWES

Identifiers

PMID39518953

DOI10.3390/ijms252111400

PMCPMC11546311

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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.