PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 239-243

  Backx, Liesbeth ^a   Vermeesch, Joris ^a   Pijkels, Elly ^a   de Ravel, Thomy ^a   Seuntjens, Eve ^b   Van Esch, Hilde ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Intellectual disability; PPP2R2C; Protein phosphatase 2A; Reciprocal translocation

Indexed keywords

PHOSPHOPROTEIN PHOSPHATASE 2A;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME 4P; DISEASE SEVERITY; EPILEPSY; FEMALE; GENE DISRUPTION; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING; MEMORY; NERVE CELL PLASTICITY; PROTEIN EXPRESSION; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHOOL CHILD;

ANIMALS; CHILD; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, X-LINKED; HAPLOINSUFFICIENCY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MICE; PEDIGREE; PROTEIN PHOSPHATASE 2; TRANSLOCATION, GENETIC;

EID: 77956913965     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.06.006     Document Type: Article

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