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Chunk #12 — Results — Expression and Functional Studies of PTCHD1

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
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Expression analysis for the PTCHD1 and the ncRNA transcripts suggests that they are transcribed in brain regions, notably the cerebellum, as well as in other tissues (Fig. 3 and fig. S3. RNA in situ hybridization of Ptchd1 in mouse showed widespread expression in the developing brain from E9.5/10.5 to P1 (Fig. 4a), as well as broad expression in the adult mouse brain (6 months), with highest density in the cerebellum (see Allen brain atlas online (19)).