Evidence map›Paper›PMID 39201553›Full record

ArticleInternational journal of molecular sciences2024

Genetic Variants in the

Thatphicha Kularbkaew, Tipaporn Thongmak, Phan Sandeth, Teerada Daroontum, Callum S Durward, Pichai Vittayakittipong, Paul Duke, Anak Iamaroon, Sompid Kintarak, Worrachet Intachai and 6 more

Erratum issuedAbstract readCase Reports
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. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Correction: Kularbkaew et al. Genetic Variants in theInternational journal of molecular sciences · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors.

Thatphicha KularbkaewCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Tipaporn ThongmakPediatric Division, Hatyai Hospital, Songkhla 90110, Thailand.
Phan SandethDepartment of Oral and Maxillofacial Surgery, Preah Ang Duong Hospital, Phnom Penh 120201, Cambodia.
Teerada DaroontumDepartment of Pathology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
Callum S DurwardFaculty of Dentistry, University of Puthisastra, Phnom Penh 120201, Cambodia.ORCID 0000-0002-7914-3164
Pichai VittayakittipongDepartment of Oral and Maxillofacial Surgery, Faculty of Dentistry, Prince of Songkla University, Songkhla 90110, Thailand.
Paul DukeRoyal Adelaide Hospital, Adelaide, SA 5000, Australia.
Anak IamaroonDepartment of Oral Biology and Diagnostic Sciences, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Sompid KintarakDepartment of Oral Diagnostic Sciences, Faculty of Dentistry, Prince of Songkla University, Songkhla 90110, Thailand.ORCID 0000-0001-9042-8446
Worrachet IntachaiCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0003-3543-8136
Chumpol NgamphiwNational Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, Thailand Science Park, Pathum Thani 12120, Thailand.ORCID 0000-0002-8581-397X
Sissades TongsimaNational Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, Thailand Science Park, Pathum Thani 12120, Thailand.
Peeranat JatooratthawichotSchool of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand.ORCID 0000-0002-4646-1860
Timothy C CoxDepartments of Oral & Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.ORCID 0000-0001-8015-5528
James R Ketudat CairnsSchool of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand.ORCID 0000-0003-3042-1626
Piranit KantaputraCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-9841-0881

Funding

Center for Biomolecular Structure, Function and Application, Suranaree University of Technology N/AChiang Mai University TGCMU2566P011/2566Health Systems Research Institute 64-123Stowers Family Endowment for dental and musculoskeletal research N/A
6 · The paper itself

Abstract

Ramon syndrome (MIM 266270) is an extremely rare genetic syndrome, characterized by gingival fibromatosis, cherubism-like lesions, epilepsy, intellectual disability, hypertrichosis, short stature, juvenile rheumatoid arthritis, and ocular abnormalities. Hereditary or non-syndromic gingival fibromatosis (HGF) is also rare and considered to represent a heterogeneous group of disorders characterized by benign, slowly progressive, non-inflammatory gingival overgrowth. To date, two genes,

Indexed as

Fibromatosis, GingivalGTPase-Activating ProteinsAdultChildExome SequencingFemaleGenetic Predisposition to DiseaseGenetic VariationHumansIntellectual DisabilityMaleMutationPedigreeGTPase-Activating ProteinsTBC1D2B protein, humancherubismepilepsyfibromatosisgingivalKREMEN2TBC1D2Bwhole exome sequencing

Identifiers

PMID39201553
PMCPMC11354241

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.