Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene

Neuropediatrics

Volumn 32, Issue 3, 2001, Pages 162-164

  Schwartzman, J S ^a   Bernardino, A ^a   Nishimura, A ^a   Gomes, R R ^a   Zatz, M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

MECP2 mutation; Rett syndrome; XXY karyotype

Indexed keywords

GENE PRODUCT; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EXON; GENE MUTATION; HOUSEKEEPING GENE; HUMAN; INCIDENCE; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SEX RATIO; STOP CODON; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; GENETIC SCREENING; HUMANS; KLINEFELTER SYNDROME; MALE; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MUTATION; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0034891348     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-16620     Document Type: Article

References (15)

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11. Two affected boys in a Rett syndrome family - Clinical and molecular findings
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14. Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes