Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 1916-1922

  Cafferkey, Michiala ^a   Ahn, Joo Wook ^b   Flinter, Frances ^a,b   Ogilvie, Caroline ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

15q11.2(BP1 BP2) deletion; Array CGH; CNV; NIPA1

Indexed keywords

15Q11.2 DELETION; ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; BP1 GENE; BP2 GENE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; CYFIP1 GENE; DEVELOPMENTAL DISORDER; EPILEPSY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; INFANT; LANGUAGE DELAY; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; MOTOR DYSFUNCTION; NIPA1 GENE; NIPA2 GENE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SEIZURE; SPEECH DELAY; TUBGCP5 GENE; CASE CONTROL STUDY; CHROMOSOME 15; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; DEVELOPMENTAL DISABILITIES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; INFORMATION PROCESSING; MENTAL DISORDERS; MIDDLE AGED; NEWBORN; PRESCHOOL CHILD; PREVALENCE; SYNDROME; YOUNG ADULT;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DATASETS AS TOPIC; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL DISORDERS; MIDDLE AGED; PHENOTYPE; PREVALENCE; SYNDROME; YOUNG ADULT;

EID: 84904415339     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36554     Document Type: Article

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