Evidence map›Paper›PMID 39596554›Full record

ArticleGenes2024

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the

Talyta Campos, Elza Uchoa, Victor Santos, Raffael Zatarin, Rosenelle Benício, Clayson Gomes, Aparecido da Cruz

Abstract readCase Reports
PubMed Full text at PMC Publisher
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

7 authors.

Talyta CamposReplicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.ORCID 0009-0000-0540-570X
Elza UchoaClinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia 74605-050, GO, Brazil.
Victor SantosClinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia 74605-050, GO, Brazil.
Raffael ZatarinClinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia 74605-050, GO, Brazil.
Rosenelle BenícioClinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia 74605-050, GO, Brazil.
Clayson GomesReplicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.
Aparecido da CruzReplicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.ORCID 0000-0003-0753-3814

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the

Indexed as

Camurati-Engelmann SyndromeMutation, MissensePedigreeTransforming Growth Factor beta1AdolescentAdultChildFemaleGenetic Association StudiesHumansMalePhenotypeTGFB1 protein, humanTransforming Growth Factor beta1autosomal dominantbone metabolismhyperostosisrare disease

Identifiers

PMID39596554
PMCPMC11593567

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.