ArticleMolecular syndromology2011
RASopathies: Clinical Diagnosis in the First Year of Life.
Article in Molecular syndromology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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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.
The trial behind it
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Who cites it
41 citing papers in PubMed, 94 citations in OpenAlex.
- Personalized care outweighs ultraspecialization: a caregiver's perspective on meaningful medicine in genodermatoses.Skin health and disease · 2026Article
- Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.Molecular syndromology · 2026Article
- The impact of RAS on cell differentiation in health and disease.The Biochemical journal · 2025Review
- Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.Genetics in medicine open · 2025Article
- Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.Frontiers in genetics · 2025Article
- [Diagnostic and therapeutic perspectives in RASopathies].Magyar onkologia · 2024Review
- Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.European journal of human genetics : EJHG · 2024Observational
- Paternally Inherited Noonan Syndrome Caused by aGenes · 2024Review
- Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.Circulation. Genomic and precision medicine · 2023Article
- AnGenes · 2023Article
- Noonan syndrome: improving recognition and diagnosis.Archives of disease in childhood · 2022Review
- Epilepsy in a cohort of children with Noonan syndrome and related disorders.European journal of pediatrics · 2022Article
- Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.Molecular syndromology · 2022Review
- Feeding Problems in Patients with Noonan Syndrome: A Narrative Review.Journal of clinical medicine · 2022Review
- Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.Frontiers in endocrinology · 2022Review
- Article
- Pathogenic Mechanisms of Hypertrophic Cardiomyopathy beyond Sarcomere Dysfunction.International journal of molecular sciences · 2021Review
- Ventricular fibrillation due to a likely pathogenicHeartRhythm case reports · 2021Article
- Hyperactive MEK1 Signaling in Cortical GABAergic Neurons Promotes Embryonic Parvalbumin Neuron Loss and Defects in Behavioral Inhibition.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.Diagnostics (Basel, Switzerland) · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to the first year of life of 57 subjects with molecularly confirmed diagnosis of RASopathy, to define the early clinical features characterizing these disorders and improve our knowledge on natural history. Mildly or markedly expressed facial features were invariably present. Congenital heart defects were the clinical issue leading to medical attention in patients with Noonan syndrome and LEOPARD syndrome. Feeding difficulties and developmental motor delay represented the most recurrent features occurring in subjects with cardiofaciocutaneous syndrome and Costello syndrome. Thin hair was prevalent among SHOC2 and BRAF mutation-positive infants. Café-au-lait spots were found in patients with LS and PTPN11 mutations, while keratosis pilaris was more common in individuals with SOS1, SHOC2 and BRAF mutations. In conclusion, some characteristics can be used as hints for suspecting a RASopathy during the first months of life, and individual RASopathies may be suspected by analysis of specific clinical signs. In the first year of life, these include congenital heart defects, severity of feeding difficulties and delay of developmental milestones, hair and skin anomalies, which may help to distinguish different entities, for their subsequent molecular confirmation and appropriate clinical management.
Identifiers
What OpenQuestion holds
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.