Subhadra Ramanathan Abigail Woodroffe Pamela L Flodman Lee Z Mays Mona Hanouni Charlotte B Modahl Robin Steinberg-Epstein Maureen E Bocian M Anne Spence Moyra Smith
10.1186/1471-2350-5-10
BMC Med Genet
2004 Apr 16;5:10.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/15090072/
Autistic Disorder / genetics Chromosome Deletion Chromosomes, Human, Pair 4 Receptors, Neurotransmitter / genetics
Autistic Disorder / genetics Chromosome Deletion Chromosomes, Human, Pair 4 Receptors, Neurotransmitter / genetics Case Reports Research Support, U.S. Gov't, P.H.S. Autistic Disorder / diagnosis Cytogenetic Analysis Genetic Markers Humans Infant Language Disorders / diagnosis Male Microsatellite Repeats Polymorphism, Genetic Protein Subunits / genetics Receptors, AMPA / genetics Receptors, Glycine / genetics Receptors, Neuropeptide Y / genetics GLRB protein, human Genetic Markers Protein Subunits Receptors, AMPA Receptors, Glycine Receptors, Neuropeptide Y Receptors, Neurotransmitter neuropeptide Y-Y1 receptor neuropeptide Y5 receptor glutamate receptor ionotropic, AMPA 2
PMC411038
15090072
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
2004