Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements

European Journal of Human Genetics

Volumn 12, Issue 8, 2004, Pages 682-685

  Longo, Ilaria ^a   Russo, Luisa ^b   Meloni, Ilaria ^a   Ricci, Iolanda ^b   Ariani, Francesca ^a   Pescucci, Chiara ^a   Giordano, Carmela Tiziana ^b   Canitano, Roberto ^c   Hayek, Giuseppe ^c   Zappella, Michele ^c   Neri, Giovanni ^b   Renieri, Alessandra ^a   Gurrieri, Fiorella ^b  

^a UNIVERSITY OF SIENA   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Autism; Chromosome 15 rearrangements; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADULT; ARTICLE; AUTISM; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE LOCUS; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPOTHESIS; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD;

CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 15; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; GENE REARRANGEMENT; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 4444315264     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201198     Document Type: Article

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