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New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study
BACKGROUND: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in the pediatric population is most certainly underestimated. T...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789552/ https://www.ncbi.nlm.nih.gov/pubmed/36566191 http://dx.doi.org/10.1186/s12887-022-03804-2 |