ArticleArchives of medical science : AMS2017
Noonan syndrome - a new survey.
Article in Archives of medical science : AMS, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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.
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Who cites it
17 citing papers in PubMed, 48 citations in OpenAlex.
- Neonatal Noonan syndrome with acute kidney injury and systemic capillary leak syndrome caused by aFrontiers in pediatrics · 2026Article
- Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details onDiagnostics (Basel, Switzerland) · 2025Article
- Article
- Noonan syndrome: rhGH treatment and PTPN11 mutation.Molecular genetics & genomic medicine · 2023Article
- Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes.Journal of pediatric genetics · 2023Article
- Clinical Indications for Growth Hormone Therapy.Advances in pediatrics · 2022Review
- Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency.Acta bio-medica : Atenei Parmensis · 2022Article
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- [Cochlear implantation in a patient with Noonan syndrome caused by a variant inLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External GenitaliaJournal of clinical research in pediatric endocrinology · 2020Article
- Combined cardiac anomalies in Noonan syndrome: A case report.International journal of surgery case reports · 2020Article
- The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.Molecular genetics & genomic medicine · 2019Article
- Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.Medicine · 2018Review
- [Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy].Der Internist · 2018Review
- Protein tyrosine phosphatases in cardiac physiology and pathophysiology.Heart failure reviews · 2018Review
- Breast reconstruction in a patient with Noonan syndrome.BMJ case reports · 2017Article
- RASopathies: Evolving Concepts in Pathogenetics, Clinical Features, and Management.Indian dermatology online journalReview
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.
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Registered trials
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.