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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...

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Detalles Bibliográficos
Autores principales: Baldo, Francesco, Fachin, Alice, Da Re, Beatrice, Rubinato, Elisa, Bobbo, Marco, Barbi, Egidio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
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