Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1568-1573

  Okamoto, Nobuhiko ^a   Hatsukawa, Yoshikazu ^a   Shimojima, Keiko ^b   Yamamoto, Toshiyuki ^b  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Autism; CADPS2; CGH; PHPV; TSPAN12

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; CALCIUM DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; NEUROTROPHIN 3; REGULATOR PROTEIN; TETRASPANIN; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CADPS2 GENE; CASE REPORT; CHILD; CHROMOSOME BAND; CHROMOSOME DELETION; CHROMOSOME DELETION 7Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONSULTATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DNA MICROARRAY; FACE MALFORMATION; GENE DELETION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; KARYOTYPING; MALE; PATHOGENESIS; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SECRETION; TSPAN12 GENE; VISUAL IMPAIRMENT;

CALCIUM-BINDING PROTEINS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; HAPLOINSUFFICIENCY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; VESICULAR TRANSPORT PROTEINS;

EID: 79959530983     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34028     Document Type: Article

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