Refining the phenotype associated with MEF2C point mutations

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 71-75

  Bienvenu, Thierry ^a,b,c   Diebold, Bertrand ^c   Chelly, Jamel ^a,b,c   Isidor, Bertrand ^d  

^a INSTITUT COCHIN   (France)

^b INSERM   (France)

^c Hôpital Cochin ^*  (France)

^d NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

Hand stereotypies; Intellectual disability; MEF2C; Mental retardation

Indexed keywords

GENOMIC DNA; MEF2C PROTEIN; NERVE PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

AMBLYOPIA; APRAXIA; ARTICLE; BODY HEIGHT; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA METHYLATION; DNA SEQUENCE; ELECTRORETINOGRAPHY; EPILEPSY; EVOKED VISUAL RESPONSE; EXON; FEEDING DISORDER; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MALE; MISSENSE MUTATION; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PATIENT SELECTION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SPEECH DISCRIMINATION; STEREOTYPY; STRABISMUS;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MADS DOMAIN PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MYOGENIC REGULATORY FACTORS; PHENOTYPE; POINT MUTATION; STRABISMUS;

EID: 84873708585     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0344-7     Document Type: Article

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