AIMC Topic: Noonan Syndrome
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Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients.
Genetics in medicine : official journal of the American College of Medical Genetics
Sep 13, 2022
PURPOSE: The variable expressivity and multisystem features of Noonan syndrome (NS) make it difficult for patients to obtain a timely diagnosis. Genetic testing can confirm a diagnosis, but underdiagnosis is prevalent owing to a lack of recognition a...
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