IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features

Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. We report a family with an apparent XLID pattern with th...

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Bibliographic Details
Published in:Eur J Med Genet
Main Authors: Youngs, Erin L., Henkhaus, Rebecca, Hellings, Jessica A., Butler, Merlin G.
Format: Artigo
Language:Inglês
Published: 2011
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5438265/
https://ncbi.nlm.nih.gov/pubmed/21933724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2011.08.004
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