Evidence map›Paper›PMID 41675685›Full record

ArticleMolecular syndromology2026

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Bruna Miranda Corso, Luiza de Oliveira Simões, Karina Montemor Klegen de Oliveira, Ana Mondadori Dos Santos, Luise Longo Angeloni, Ruy Pires de Oliveira Sobrinho, Vera Lúcia Gil-da-Silva-Lopes, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel Guerra, Gil Guerra-Junior and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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

18 authors.

Bruna Miranda CorsoDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Luiza de Oliveira SimõesDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Karina Montemor Klegen de OliveiraDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Ana Mondadori Dos SantosDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Luise Longo AngeloniDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Ruy Pires de Oliveira SobrinhoDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Vera Lúcia Gil-da-Silva-LopesDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Antonia Paula Marques-de-FariaDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Andréa Trevas Maciel GuerraDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Gil Guerra-JuniorDepartamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Alexander Augusto de Lima JorgeUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
Elisângela Pereira de Souza QuedasUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
Henrique Garcia SilveiraDisciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Giovana ToccoliDisciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Maria Isabel MelaragnoDisciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Rare Genomes Project Consortium
Mara Sanches GuaragnaDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Carlos Eduardo SteinerDepartamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: RASopathies are a heterogeneous group of conditions of the RAS/mitogen-activated protein kinase pathway presenting with overlapping features such as growth deficiency, neurodevelopmental disorders, cardiac defects, craniofacial dysmorphisms, cutaneous and ocular abnormalities, and increased cancer risk. Methods: This retrospective study analyzed the medical records regarding clinical and molecular data from 2018 to 2024 in a single center for rare diseases of individuals diagnosed with Noonan syndrome and related disorders previously submitted to diagnostic molecular analysis through next-generation sequencing techniques. Results: Twenty-four patients were enrolled with an even sex ratio distribution and ages ranging from 1 month to 16 years at first evaluation. The main reason for referral was diagnostic assessment due to a combination of dysmorphic features (24/24; 100%), growth deficiency (18/24; 75%), neurodevelopmental disorders (15/24; 62.5%), and/or heart disease (13/24; 54.1%). Final diagnoses included 15 individuals with Noonan syndrome (nine with variants in Conclusion: Three pairs of unrelated patients presented recurrent variants in the

Indexed as

Cardiofaciocutaneous syndromeCostello syndromeNeurofibromatosis-Noonan phenotypeNext-generation sequencingNoonan syndromeRASopathies

Identifiers

PMID41675685
PMCPMC12890297

What OpenQuestion holds

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Registered trials

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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.