Evidence map›Paper›PMID 33552642›Full record

ArticleJournal of pediatric genetics2021

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.

Desirée Deconte, Elisa Pacheco Estima Correia, Géssica Haubert, Vinicius de Souza, Jamile Dutra Correia, Marcia Angelica Peter Maahs, Paulo Ricardo Gazzola Zen, Marilu Fiegenbaum, Rafael Fabiano Machado Rosa

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric genetics, 2021. 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, top 98% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

9 authors at 1 institution in 1 country.

Desirée DeconteGraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Elisa Pacheco Estima CorreiaGraduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Géssica HaubertGraduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Vinicius de SouzaGraduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Jamile Dutra CorreiaGraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Marcia Angelica Peter MaahsDepartment of Speech Language Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Paulo Ricardo Gazzola ZenGraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Marilu FiegenbaumGraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Rafael Fabiano Machado RosaGraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Universidade Federal de Ciências da Saúde de Porto Alegre · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of

Indexed as

asymmetrycherubismvariable expressivity

Identifiers

PMID33552642
PMCPMC7853913
OpenAlexW3008217021

What OpenQuestion holds

Textmetadata
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.