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A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to syna...

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Detalles Bibliográficos
Autores principales: Sangu, Noriko, Shimojima, Keiko, Takahashi, Yuya, Ohashi, Tsukasa, Tohyama, Jun, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298938/
https://www.ncbi.nlm.nih.gov/pubmed/28224041
http://dx.doi.org/10.1038/hgv.2017.1