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Noonan syndrome: improving recognition and diagnosis
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. The phenotype varies in severity and can involve multiple organ systems over a patient’s lifetime. Diagnosis is based on a combination of features, including typical facial features, short stature,...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685729/ https://www.ncbi.nlm.nih.gov/pubmed/35246453 http://dx.doi.org/10.1136/archdischild-2021-322858 |