Specific Clinical and Brain MRI Features in Mentally Retarded Patients with Mutations in the Oligophrenin-1 Gene

American Journal of Medical Genetics

Volumn 124 A, Issue 4, 2004, Pages 364-371

  Des Portes, Vincent ^a,b,e   Boddaert, Nathalie ^c   Sacco, Silvia ^b   Briault, Sylvain ^d   Maincent, Kim ^b   Bahi, Nadia ^b   Gomot, Marie ^d   Ronce, Nathalie ^d   Bursztyn, Joseph ^b   Adamsbaum, Catherine ^b   Zilbovicius, Monica ^c   Chelly, Jamel ^b   Moraine, Claude ^d  

^a Service de Pediatrie Lyon   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c DIF   (France)

^d CHU BRETONNEAU   (France)

^e CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Brain imaging; Cerebellum; Oligophrenin 1; X linked mental retardation

Indexed keywords

GENE PRODUCT; OLIGOPHRENIN 1; UNCLASSIFIED DRUG;

ADAPTIVE BEHAVIOR; ADULT; ANAMNESIS; ARTICLE; ATAXIA; BRAIN ATROPHY; CASE REPORT; CEREBELLUM VERMIS; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COGNITION; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEMALE; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE INACTIVATION; GENETIC SCREENING; HUMAN; IMAGE ANALYSIS; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; STRABISMUS; X LINKED MENTAL RETARDATION;

ADULT; CEREBELLUM; CYTOSKELETAL PROTEINS; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; GTPASE-ACTIVATING PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; MUSCLE HYPOTONIA; MUTATION; NUCLEAR PROTEINS; VISION DISORDERS;

ATAXIA;

EID: 0942268997     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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