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Severe Hemophilia A and Moyamoya Syndrome in a 19-Year-Old Boy Caused by Xq28 Microdeletion

Severe hemophilia A and moyamoya (SHAM) syndrome is a rare condition that combines hemophilia A and moyamoya disease (MMD) due to an Xq28 microdeletion encompassing the F8 and BRCC3 genes. Here, we report the case of a 19-year-old male patient with hemophilia A and hypogonadism that presented with r...

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Principais autores: Evangelia Tzeravini, Stamatia Samara, Anna Kouramba, Georgios Vakrinos, Athina Efthimiou, Maria Tzetis, Theodoros Androutsakos
Formato: Artigo
Idioma:Inglês
Publicado: Karger Publishers 2022-05-01
Series:Case Reports in Neurology
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Acceso en liña:https://www.karger.com/Article/FullText/524482
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