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- W3206543599 abstract "CHARGE syndrome is a rare multisystem genetic disorder. Mutation in CHD7 gene was seen in around 58–64% of cases. It is usually diagnosed in infancy or childhood owing to the characteristic clinical features. However, there are occasionally late presentations, especially in resource limited settings where the clinical features may be ignored by the patients and there is delay in seeking medical care. We report a case of CHARGE syndrome with late diagnosis presenting with heart failure." @default.
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- W3206543599 date "2021-10-01" @default.
- W3206543599 modified "2023-09-26" @default.
- W3206543599 title "Missing tissues in eye and heart with facial palsy – Case report of CHARGE syndrome with late presentation as heart failure" @default.
- W3206543599 doi "https://doi.org/10.1016/j.jns.2021.118479" @default.
- W3206543599 hasPublicationYear "2021" @default.
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