CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

European Journal of Human Genetics

Volumn 22, Issue 9, 2014, Pages 1071-1076

  Soler Alfonso, Claudia ^a   Carvalho, Claudia M B ^b,c   Ge, Jun ^b   Roney, Erin K ^b   Bader, Patricia I ^d   Kolodziejska, Katarzyna E ^b   Miller, Rachel M ^d   Lupski, James R ^b,e   Stankiewicz, Pawel ^b   Cheung, Sau Wai ^b   Bi, Weimin ^b   Schaaf, Christian P ^b,e  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c INSTITUTO OSWALDO CRUZ   (Brazil)

^d Parkview Health Laboratories   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

autism spectrum disorder; cholinergic nervous system; copy number variation; dosage sensitivity

Indexed keywords

BUNGAROTOXIN RECEPTOR; NICOTINIC RECEPTOR; CHRNA7 PROTEIN, HUMAN;

ANXIETY DISORDER; ARTICLE; BIPOLAR DISORDER; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME 15Q13.3; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE DELETION; GENE DUPLICATION; GENE OVEREXPRESSION; GENE SEGREGATION; GENE TRIPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MALE; MONOZYGOTIC TWINS; PATHOGENICITY; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; WECHSLER INTELLIGENCE SCALE; ADULT; CONTROLLED STUDY; FEMALE; GENE NUMBER; GENE REPLICATION; HUMAN CELL; INTELLECTUAL IMPAIRMENT; NEUROPSYCHIATRY; PEDIGREE; SCHOOL CHILD; CHROMOSOME 15; CHROMOSOME BREAKAGE; DEVELOPMENTAL DISABILITIES; GENETICS; INTELLECTUAL DISABILITY;

ADULT; ALPHA7 NICOTINIC ACETYLCHOLINE RECEPTOR; CHILD; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; PEDIGREE;

EID: 84906278036     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.302     Document Type: Article

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