Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features

Clinical Genetics

Volumn 64, Issue 6, 2003, Pages 497-501

  Pescucci, C ^a   Meloni, I ^a   Bruttini, M ^a   Ariani, F ^a   Longo, I ^a   Mari, F ^a   Canitano, R ^a   Hayek, G ^a   Zappella, M ^a   Renieri, Alessandra ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

Chromosome 2 deletion; MAP2 gene; Preserved speech variant of Rett syndrome; Rett syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; CYSTEINE; DISINTEGRIN; ERYTHROID KRUPPEL LIKE FACTOR; METALLOPROTEINASE; MICROTUBULE ASSOCIATED PROTEIN 2;

ADOLESCENT; ARTICLE; AUTISM; BEHAVIOR DISORDER; BRAIN NERVE CELL; BRUXISM; CASE REPORT; CELL MATURATION; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME DELETION 2; CLINICAL FEATURE; DENDRITE; DYSPRAXIA; EAR LOBE; EAR MALFORMATION; ECHOLALIA; FACE DYSMORPHIA; FEMALE; FOOT MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HAND WASHING; HEAD CIRCUMFERENCE; HUMAN; HYPERPNEA; IMMUNOREACTIVITY; MEDICAL DOCUMENTATION; MOTOR DYSFUNCTION; NUCLEOTIDE SEQUENCE; OBESITY; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SPEECH DISORDER; SYNDACTYLY; TOE MALFORMATION; WHITE MATTER;

ADOLESCENT; AUTISTIC DISORDER; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CYTOGENETIC ANALYSIS; DNA PRIMERS; FEMALE; HUMANS; PEDIGREE; PHENOTYPE; RETT SYNDROME; SEQUENCE ANALYSIS, DNA;

EID: 10744231297     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1399-0004.2003.00176.x     Document Type: Article

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