paperKB
coga / coga-kb
Processing
Help
Sign in

Chunk #25 — Discussion

Source
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Embedded
yes

Text

loci may be contributing to the pathogenesis of ASD, and another seven families bearing upstream microdeletions that disrupt a complex non-coding RNA, providing possible genetic explanations for the clinical heterogeneity of these disorders. Finally, our results raise the possibility that Hh signaling may be perturbed in these conditions. This discovery may help provide possible targets for therapeutics in individuals with mutations at this locus.