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 Medical Genetics

Volumn 5, Issue , 2004, Pages

  Ramanathan, Subhadra ^a   Woodroffe, Abigail ^a   Flodman, Pamela L ^a   Mays, Lee Z ^a   Hanouni, Mona ^a   Modahl, Charlotte B ^a   Steinberg Epstein, Robin ^a   Bocian, Maureen E ^a   Spence, M Anne ^a   Smith, Moyra ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUTAMATE RECEPTOR; GLUTAMATE RECEPTOR 2; GLYCINE RECEPTOR; NEUROPEPTIDE RECEPTOR; NEUROPEPTIDE Y; NEUROPEPTIDE Y1 RECEPTOR; NEUROPEPTIDE Y5 RECEPTOR; NEUROTRANSMITTER RECEPTOR; RECEPTOR SUBUNIT;

ARTICLE; AUTISM; BRAIN DEVELOPMENT; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; COMMUNICATION DISORDER; COMPULSION; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ENVIRONMENTAL FACTOR; FAMILY STUDY; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; HEMIZYGOSITY; HEREDITY; HIPPOCAMPUS; HUMAN; HUMAN CELL; INHERITANCE; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XY; LEARNING; MEMORY; MOTOR DYSFUNCTION; NERVE CELL PLASTICITY; PHENOTYPE; SEQUENCE ANALYSIS; SOCIAL INTERACTION;

AUTISTIC DISORDER; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CYTOGENETIC ANALYSIS; GENETIC MARKERS; HUMANS; INFANT; LANGUAGE DISORDERS; MALE; MICROSATELLITE REPEATS; POLYMORPHISM, GENETIC; PROTEIN SUBUNITS; RECEPTORS, AMPA; RECEPTORS, GLYCINE; RECEPTORS, NEUROPEPTIDE Y; RECEPTORS, NEUROTRANSMITTER;

EID: 2542435173     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-5-10     Document Type: Article

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