Evidence map›Paper›PMID 41153399›Full record

ArticleGenes2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Cecilia Mancini, Luigi Chiriatti, Alessandro Bruselles, Paola D'ambrosio, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Mattia Carvetta, Francesca Clementina Radio, Viviana Cordeddu and 8 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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. Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 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

18 authors.

Cecilia ManciniMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Luigi ChiriattiMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Paola D'ambrosioMedical and Molecular Genetics, AORN A. Cardarelli, 80131 Naples, Italy.
Andrea CiolfiMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Marco FerilliMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.ORCID 0000-0002-9883-311X
Camilla CappellettiMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Mattia CarvettaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.ORCID 0000-0003-4584-0663
Francesca Clementina RadioMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.ORCID 0000-0003-1993-8018
Viviana CordedduDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Marcello NicetaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.ORCID 0000-0003-4766-7753
Marta ParrinoMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Rossella CapolinoRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Corrado MammìMedical Genetics Unit, GOM Bianchi-Melacrino-Morelli, 89124 Reggio Calabria, Italy.
Rossana SeneseDepartment of Advanced Diagnostic and Therapeutic Technologies, AORN A. Cardarelli Hospital, 80131 Naples, Italy.
Mario MutoDepartment of Advanced Diagnostic and Therapeutic Technologies, AORN A. Cardarelli Hospital, 80131 Naples, Italy.
Manuela PrioloMedical and Molecular Genetics, AORN A. Cardarelli, 80131 Naples, Italy.ORCID 0000-0002-4815-9550
Marco TartagliaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.ORCID 0000-0001-7736-9672

Funding

Ministero della Salute RF-2021-12374963
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

FibrosisOphthalmoplegiaTubulinChild, PreschoolCongenital Cranial Dysinnervation DisordersHumansMaleMutation, MissensePedigreePhenotypeTUBB2B protein, humanTubulinCDCBM7CFEOMDNA methylation profilingmalformations of cortical developmentTUBB2BtubulinopathiesWGS

Identifiers

PMID41153399
PMCPMC12563659

What OpenQuestion 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 OpenQuestion graph.