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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Detalles Bibliográficos
Autores principales: Tzeravini, Evangelia, Samara, Stamatia, Kouramba, Anna, Vakrinos, Georgios, Efthimiou, Athina, Tzetis, Maria, Androutsakos, Theodoros
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210018/
https://www.ncbi.nlm.nih.gov/pubmed/35815106
http://dx.doi.org/10.1159/000524482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210018/
https://www.ncbi.nlm.nih.gov/pubmed/35815106
http://dx.doi.org/10.1159/000524482

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