Evidence map›Paper›PMID 40176838›Full record

ArticleMolecular syndromology2025

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Lucas Vieira Lacerda Pires, Eduardo Da Cás, Letícia Cole de Melo, Cleyde Mirian Aversa Nakaie, Vera Dermachi Aiello, Guilherme Lopes Yamamoto, Rachel Sayuri Honjo, Chong Ae Kim, Débora Romeo Bertola

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In one paragraph

Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. 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

5 · Who and what money

Authors and funding

9 authors.

Lucas Vieira Lacerda PiresUnidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Eduardo Da CásUnidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Letícia Cole de MeloUnidade de Pneumologia, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Cleyde Mirian Aversa NakaieUnidade de Pneumologia, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Vera Dermachi AielloLaboratório de Anatomia Patológica, Instituto do Coração, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Guilherme Lopes YamamotoUnidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Rachel Sayuri HonjoUnidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Chong Ae KimUnidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Débora Romeo BertolaUnidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Noonan syndrome (NS) is a Mendelian phenotype, member of the RASopathies, a group of clinically overlapping multisystem disorders caused by germline variants in the RAS-MAPK signaling pathway genes. Among the clinical findings in NS, lymphatic abnormalities (LAs) are diagnosed in approximately 30%, mostly in individuals harboring variants in Case Presentation: Here, we report a novel case of NS harboring the Conclusion: We suggest that, when this variant is identified in an individual, clinicians should be warned of a possible higher prevalence of LA and a prompt evaluation should be performed if any clinical signs are noticed.

Indexed as

Genotype-phenotype correlationsLymphatic abnormalitiesNoonan syndromePlastic bronchitisPTPN11

Identifiers

PMID40176838
PMCPMC11961087

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.