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

Sara C M StoofRogier KersseboomFemke A T de VriesMarieke J H A KruipAnneke J A KievitFrank W G Leebeek

Published in: Molecular genetics & genomic medicine (2018)

The case history demonstrates that a severe bleeding tendency suggestive of a hemostasis defect in patients with intellectual disability warrants careful hematological and genetic work-up even in the absence of a positive family history.

Keyphrases

intellectual disability
autism spectrum disorder
atrial fibrillation
early onset
genome wide
gene expression