Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report

BACKGROUND: Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter syndrome is a genetic disorder that affects male individuals due to one or more ext...

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Detalles Bibliográficos
Autores principales: Gaviria, Anibal, Cadena-Ullauri, Santiago, Cevallos, Francisco, Guevara-Ramirez, Patricia, Ruiz-Pozo, Viviana, Tamayo-Trujillo, Rafael, Paz-Cruz, Elius, Zambrano, Ana Karina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446752/
https://www.ncbi.nlm.nih.gov/pubmed/36064723
http://dx.doi.org/10.1186/s13039-022-00618-w

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