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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