Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9

BACKGROUND: Hemophilia B is an X‐linked recessive disorder caused by mutations in the F9 on Xq27.1. Mainly males are affected but about 20% of female carriers have clotting factor IX activity below 0.40 IU/ml and bleeding problems. Fragile‐X syndrome (FMR1) and FRAXE syndrome (AFF2) are well‐known c...

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Publicado en:Mol Genet Genomic Med
Autores principales: Stoof, Sara C. M., Kersseboom, Rogier, de Vries, Femke A. T., Kruip, Marieke J. H. A., Kievit, Anneke J. A., Leebeek, Frank W. G.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305680/
https://ncbi.nlm.nih.gov/pubmed/30264515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.425
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