The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome

American Journal of Human Genetics

Volumn 90, Issue 6, 2012, Pages 1071-1078

  Vandeweyer, Geert ^a   Van Der Aa, Nathalie ^a   Reyniers, Edwin ^a   Kooy, R Frank ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CLIP2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; DROSOPHILA; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; INTELLIGENCE QUOTIENT; KNOCKOUT MOUSE; MALE; NEUROLOGIC EXAMINATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SIBLING; SOCIAL BEHAVIOR; TELOMERE; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD BEHAVIOR DISORDERS; COGNITION DISORDERS; FEMALE; GENE DELETION; GENOTYPE; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; SIBLINGS; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS, TFII; WILLIAMS SYNDROME;

EID: 84862135431     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.04.020     Document Type: Article

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