Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion

Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis. We present a GS type 1 (GS1) case with developmental delay, hypo...

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Detaylı Bibliyografya
Yayımlandı:Cureus
Asıl Yazarlar: Ortiz, Juan Fernando, Ruxmohan, Samir, Alzamora, Ivan Mateo, Patel, Amrapali, Eissa-Garcés, Ahmed
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cureus 2021
Konular:
Neurology
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8109045/
https://ncbi.nlm.nih.gov/pubmed/33981514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.14402
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