Evidence map›Paper›PMID 39336760›Full record

ArticleGenes2024

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.

Isabella Bartolotti, Klaudia Sobul, Serena Corsini, Davide Scognamiglio, Alice Moroni, Maria Gnoli, Luca Sangiorgi, Elena Pedrini

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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

8 authors.

Isabella BartolottiDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.ORCID 0000-0002-5168-3599
Klaudia SobulDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.
Serena CorsiniDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.ORCID 0000-0002-0880-7306
Davide ScognamiglioDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.ORCID 0009-0007-5163-0327
Alice MoroniDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.ORCID 0000-0002-4777-341X
Maria GnoliDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.ORCID 0000-0002-5907-7470
Luca SangiorgiDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.
Elena PedriniDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40131 Bologna, Italy.ORCID 0000-0001-9980-7741

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas. Most MO cases are caused by mutations in the exostosin-1 (

Indexed as

Exostoses, Multiple HereditaryGene DuplicationN-AcetylglucosaminyltransferasesPedigreeAdultExonsExostosin 1FemaleHumansMaleExostosin 1N-AcetylglucosaminyltransferasesEXT1large duplicationmultiple osteochondromas

Identifiers

PMID39336760
PMCPMC11430977

What OpenQuestion holds

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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.