A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 433-435

  Shimojima, Keiko ^a   Inoue, Takehiko ^b   Fujii, Yuji ^b   Ohno, Kousaku ^b   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

Author keywords

Array comparative genomic hybridization (CGH); Autism spectrum disorder (ASD); Developmental delay; Hemivertebra; Interstitial deletion of 16p11.2; Mental retardation

Indexed keywords

T BOX 6 PROTEIN; T BOX TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; HEMIVERTEBRAE; HUMAN; HYPERACTIVITY; INGUINAL HERNIA; MALE; MENTAL DEFICIENCY; MOTHER; MUTATION; PRESCHOOL CHILD; RIB MALFORMATION; VERTEBRA MALFORMATION;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; MALE; MENTAL RETARDATION; SPINE;

EID: 70350619056     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.09.007     Document Type: Article

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