Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population
por: Chylíková, Blanka, et al.
Publicado: (2016) -
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease
por: Iourov, Ivan Y, et al.
Publicado: (2013) -
Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review
por: Qin, Lu, et al.
Publicado: (2022) -
F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis
por: Jamil, Muhammad Ahmer, et al.
Publicado: (2019) -
Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9
por: Stoof, Sara C. M., et al.
Publicado: (2018)