Refining the phenotype associated with MEF2C haploinsufficiency

Clinical Genetics

Volumn 78, Issue 5, 2010, Pages 471-477

  Novara, F ^a   Beri, S ^b   Giorda, R ^b   Ortibus, E ^c   Nageshappa, S ^d   Darra, F ^e   Dalla Bernardina, B ^e   Zuffardi, O ^a,f   Van Esch, H ^d  

^a UNIVERSITY OF PAVIA   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c Department of Pediatrics ^*  (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e Policlinico GB Rossi   (Italy)

^f C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

ACGH; Chromosome 5q14.3; Epilepsy; Haploinsufficiency; MEF2C; Microdeletion; Severe mental retardation

Indexed keywords

CLOBAZAM; ETHOSUXIMIDE; ETIRACETAM; HYDROCORTISONE; LEVOTHYROXINE; MYOCYTE ENHANCER FACTOR 2; MYOCYTE ENHANCER FACTOR 2C; NITRAZEPAM; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ARTICLE; ATONIC SEIZURE; AUTISM; BODY DYSMORPHIC DISORDER; BRAIN ATROPHY; BRAIN HEMORRHAGE; CASE REPORT; CEREBRAL PALSY; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CONVERGENT STRABISMUS; DISEASE SEVERITY; DYSTONIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENE DELETION; GENOTYPE; HAPLOINSUFFICIENCY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYPERTELORISM; HYPOTHYROIDISM; INFANTILE SPASM; IRRITABILITY; KARYOTYPING; LEUKOENCEPHALOPATHY; LEUKOMALACIA; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MYOCLONUS DYSTONIA; MYOCLONUS SEIZURE; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; TENDON REFLEX;

ADOLESCENT; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; HAPLOINSUFFICIENCY; HUMANS; INFANT; MADS DOMAIN PROTEINS; MALE; MENTAL RETARDATION; MYOGENIC REGULATORY FACTORS; PHENOTYPE; SEQUENCE DELETION;

BERNARDINA; ZIZIPHUS MAURITIANA;

EID: 77957555139     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01413.x     Document Type: Article

References (9)

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