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Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence

Patched domain-containing 1 (PTCHD1) is a well-established susceptibility gene for autism spectrum disorder (ASD) and intellectual disability (ID). Previous studies have suggested that alterations in the dosage of PTCHD1 may contribute to the etiology of both ASD and ID. However, there has not yet b...

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Detalles Bibliográficos
Autores principales: Pastore, Stephen F., Muhammad, Tahir, Stan, Cassandra, Frankland, Paul W., Hamel, Paul A., Vincent, John B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663455/
https://www.ncbi.nlm.nih.gov/pubmed/37990104
http://dx.doi.org/10.1038/s41598-023-46673-0