HIGHLIGHTS
- who: Alessandra Consales from the Italy Italy Italy Italy have published the Article: CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia, in the Journal: (JOURNAL)
- how: Sanger sequencing results showed that the mutation was not present in the patient's parents indicating that it was a de novo mutation. In the case the authors presented integrated analysis of the clinical manifestations and results of examinations performed during the patient 's NICU stay suggested the diagnosis of CS which was soon after confirmed by genetic . . .
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