Noonan syndrome: improving recognition and diagnosis.
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DOI: 10.1136/archdischild-2021-322858
Abstract: 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… read more here.
Keywords: improving recognition; diagnosis; noonan syndrome; syndrome improving ... See more keywords