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Sturge Weber Syndrome Type 1- Case report and Literature review
Neha Mishra, Arun Shah, Bigyan Paudel
Sturge Weber syndrome is caused by a somatic mosaic mutation in GNAQ gene leading to capillary malformations. It is characterized by port-wine stain, leptomeningeal angioma, glaucoma, seizures and mental retardation. We present a case of Sturge Weber syndrome from Nepal. We also have emphasized on the review of literature of other reported cases of this syndrome from Nepal
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