Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

European Journal of Human Genetics

Volumn 20, Issue 12, 2012, Pages 1315-1319

  Halgren, Christina ^a   Bache, Iben ^a   Bak, Mads ^a   Myatt, Mikkel Wanting ^a   Anderson, Claire Marie ^b   Brondum Nielsen, Karen ^a   Tommerup, Niels ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

18q12 deletion; behavioral disorder; CELF4; developmental disorder; next generation mate pair sequencing; obesity

Indexed keywords

GENOMIC DNA; METHYLPHENIDATE;

ADOLESCENT; ADULT; AMNIOCENTESIS; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CELF4 GENE; CHILD; CHROMOSOME 12Q; CHROMOSOME 18Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DSM-IV; FEBRILE CONVULSION; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENOME ANALYSIS; HAPLOINSUFFICIENCY; HUMAN; HYPERKINESIA; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPE; MALE; MICROARRAY ANALYSIS; MINI MENTAL STATE EXAMINATION; MYOPIA; NERVOUS SYSTEM DEVELOPMENT; NEWBORN; NEXT GENERATION SEQUENCING; OBESITY; OPPOSITIONAL DEFIANT DISORDER; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; WECHSLER INTELLIGENCE SCALE;

ADULT; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 18; DEVELOPMENTAL DISABILITIES; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HUMANS; MALE; MYOPIA; OBESITY; RNA-BINDING PROTEINS; SEIZURES; SYNDROME; TRANSLOCATION, GENETIC;

MUS MUSCULUS;

EID: 84869226284     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.92     Document Type: Article

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