ReviewMolecular syndromology2022
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.
Review in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.Frontiers in pediatrics · 2025Pooled it
- Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report.Clinical case reports · 2026Article
- Imaging of complex lymphatic anomalies in children.Pediatric radiology · 2026Review
- Article
- Effects of MEK-inhibitor treatment in infants with lymphatic abnormalities in noonan syndrome.Frontiers in pediatrics · 2026Article
- Neonatal Noonan syndrome with acute kidney injury and systemic capillary leak syndrome caused by aFrontiers in pediatrics · 2026Article
- Eosinophilic plastic bronchitis - A case report.Respiratory medicine case reports · 2026Article
- Sirolimus for Recurrent Chylothorax and Edema in an Infant with Noonan Syndrome after Resolved Hydrops Fetalis: A Case Report.AJP reports · 2025Article
- Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study.JCEM case reports · 2025Article
- Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.Molecular syndromology · 2025Article
- Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study.Orphanet journal of rare diseases · 2025Article
- Characteristics and advances in signaling pathways, cellular communication, cell junctions, and oxidative stress in lymphedema.Frontiers in cell and developmental biology · 2025Review
- [Diagnostic and therapeutic perspectives in RASopathies].Magyar onkologia · 2024Review
- Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.Children (Basel, Switzerland) · 2024Article
- Severe generalized edema in a premature neonate: A case report and literature review.Clinical case reports · 2024Article
- Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.Life (Basel, Switzerland) · 2024Review
- Article
- Recent Advances in Therapeutic Modalities Against Breast Cancer-Related Lymphedema: Future Epigenetic Landscape.Lymphatic research and biology · 2023Review
- Successful treatment of refractory chylothorax with MEK inhibitor trametinib in a child with Noonan syndrome: case report.European heart journal. Case reports · 2023Article
- Case report: Noonan syndrome with protein-losing enteropathy.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noonan syndrome spectrum disorders are a group of phenotypically related conditions, resembling Noonan syndrome, caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway. Lymphatic dysplasia with a clinical lymphatic abnormality is one of the major features. We performed a systematic review to get more insight in (1) the prevalence of clinically lymphatic abnormalities in patients with a genetically proven Noonan syndrome spectrum disorder, (2) if a genotype-lymphatic phenotype relation can be found and describe the clinical presentation and course of the lymphatic abnormality. Most studies report patients with Noonan syndrome. Prenatally, the prevalence of increased nuchal translucency differs from 7% in patients with pathogenic
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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.