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A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.
BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10.
BMC Med Genet. 2004.
PMID: 15090072
Free PMC article.
Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.
Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA.
Smith M, et al.
Cytogenet Cell Genet. 2001;94(1-2):15-22. doi: 10.1159/000048775.
Cytogenet Cell Genet. 2001.
PMID: 11701947
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