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- W1888270295 abstract "Autism spectrum disorders (ASD) can be classified according to the presence (complex form) or absence (essential form) of microcephaly and dysmorphic features [ [1] Miles J.H. McCathren R.B. Stichter J. Shinawi M. Autism spectrum disorders. GeneReviews® [Internet]. University of Washington, Seattle, Seattle (WA)1993–2014 Google Scholar ]. Phenotypes of ASD can be seen in single-gene disorders, including tuberous sclerosis, fragile X-syndrome and Rett syndrome [ 1 Miles J.H. McCathren R.B. Stichter J. Shinawi M. Autism spectrum disorders. GeneReviews® [Internet]. University of Washington, Seattle, Seattle (WA)1993–2014 Google Scholar , 2 Connolly J.J. Hakonarson H. Etiology of autism spectrum disorder: a genomics perspective. Curr. Psychiatry Rep. 2014; 16: 501-509 Crossref PubMed Scopus (9) Google Scholar ]. Here, we present a 14-year-old boy who developed complex ASD in association with a heterozygous microdeletion at the 1p34.2 region." @default.
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- W1888270295 date "2015-09-01" @default.
- W1888270295 modified "2023-10-14" @default.
- W1888270295 title "Overlap of autism spectrum disorder and glucose transporter 1 deficiency syndrome associated with a heterozygous deletion at the 1p34.2 region" @default.
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- W1888270295 doi "https://doi.org/10.1016/j.jns.2015.06.041" @default.
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