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- W1724877547 abstract "We report a case of Incontinentia pigmenti (IP). A day 2 female presented to the special care nursery with seizures. EEG showed multifocal epileptiform discharges and cranial MRI revealed extensive cerebral infarction. A rash appeared shortly after birth. Eye examination revealed changes of IP. There is a strong family history of IP. Genetic testing excluded the most common mutation. Follow-up reveals significant development delay." @default.
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- W1724877547 date "2014-01-01" @default.
- W1724877547 modified "2023-09-25" @default.
- W1724877547 title "Neonatal presentation of incontinentia pigmenti with a family history extending over four generations – A case report" @default.
- W1724877547 doi "https://doi.org/10.3233/npm-1475413" @default.
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