Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Molecular Cytogenetics

Volumn 5, Issue 1, 2012, Pages

  Celestino Soper, Patrícia Bs ^a   Skinner, Cindy ^b   Schroer, Richard ^b   Eng, Patricia ^a   Shenai, Jayant ^c   Nowaczyk, Malgorzata M J ^d   Terespolsky, Deborah ^e   Cushing, Donna ^e   Patel, Gayle S ^f   Immken, Ladonna ^f   Willis, Alecia ^a   Wiszniewska, Joanna ^a   Matalon, Reuben ^g   Rosenfeld, Jill A ^h   Stevenson, Roger E ^b   Kang, Sung Hae L ^a   Cheung, Sau Wai ^a   Beaudet, Arthur L ^a   Stankiewicz, Pawel ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c VANDERBILT UNIVERSITY   (United States)

^d HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^e CREDIT VALLEY HOSPITAL   (Canada)

^f Specially for Children   (United States)

^g University of Texas Medical Branch School of Medicine   (United States)

^h PERKINELMER INC   (United States)

Author keywords

6p deletions; Array comparative genomic hybridization; Copy number variants

Indexed keywords

DYSBINDIN;

ADOLESCENT; ARTICLE; ATXN1 GENE; AUTISM; BEHAVIOR DISORDER; CHILD; CHROMOSOME 22; CHROMOSOME 6P; CHROMOSOME DELETION; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DATA BASE; DEVELOPMENTAL DISORDER; FEMALE; GENE; HEART DISEASE; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; JARID2 GENE; MAJOR CLINICAL STUDY; MALE; MOLECULAR WEIGHT; NHLRC1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; UNITED STATES;

EID: 84859364050     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-17     Document Type: Article

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