Evidence map›Paper›PMID 36360300›Full record

ArticleGenes2022

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Silvia Caino, Marisa Angelica Cubilla, Romina Alba, María Gabriela Obregón, Virginia Fano, Abel Gómez, Lorena Zecchini, Pablo Lapunzina, Miriam Aza-Carmona, Karen Elise Heath and 1 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.0field-weighted citation impact, top 26% of its field
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

8 citing papers in PubMed, 11 citations in OpenAlex.

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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

11 authors at 5 institutions in 2 countries.

Silvia CainoServicio de Crecimiento y Desarrollo, Hospital de Pediatría J.P, Garrahan, Buenos Aires C1245, Argentina.
Marisa Angelica CubillaCentro de Estudio de las Metabolopatías Congénitas (CEMECO), Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba X5014AKN, Argentina.
Romina AlbaServicio de Crecimiento y Desarrollo, Hospital de Pediatría J.P, Garrahan, Buenos Aires C1245, Argentina.
María Gabriela ObregónServicio de Genética, Hospital de Pediatría J.P. Garrahan, Buenos Aires C1245, Argentina.
Virginia FanoServicio de Crecimiento y Desarrollo, Hospital de Pediatría J.P, Garrahan, Buenos Aires C1245, Argentina.ORCID 0000-0003-3311-2220
Abel GómezServicio de Genética, Hospital de Pediatría J.P. Garrahan, Buenos Aires C1245, Argentina.
Lorena ZecchiniServicio de Ortopedia y Traumatología, Hospital de Niños de la Santísima Trinidad, Córdoba X5014AKN, Argentina.
Pablo LapunzinaInstitute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0000-0002-6324-4825
Miriam Aza-CarmonaInstitute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain.
Karen Elise HeathInstitute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain.
Carla Gabriela AsteggianoCentro de Estudio de las Metabolopatías Congénitas (CEMECO), Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba X5014AKN, Argentina.
Garrahan Hospital · ARHospital Universitario La Paz · ESConsejo Nacional de Investigaciones Científicas y Técnicas · ARHospital de Niños de la Santísima Trinidad · ARUniversidad Católica de Córdoba · AR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes,

Indexed as

Exostoses, Multiple HereditaryCross-Sectional StudiesGenetic TestingHumansMutationN-AcetylglucosaminyltransferasesN-AcetylglucosaminyltransferasesEXT1/EXT2-CDGmultiple exostosismultiple osteochondromatosisO-glycosylation disordersosteochondroma

Identifiers

PMID36360300
PMCPMC9690389
OpenAlexW4308507529

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.