Rett syndrome in Spain: mutation analysis and clinical correlations

Brain and Development

Volumn 23, Issue SUPPL. 1, 2001, Pages

  Monrós, Eugènia ^a   Armstrong, Judith ^a   Aibar, Elena ^a   Poo, Pilar ^b   Canós, Ignacio ^c   Pineda, Mercè ^b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b Sant Joan de Deu Children's Hospital   (Spain)

^c Hospital Dr Pesset   (Spain)

Author keywords

Genotype phenotype correlations; Male Rett syndrome; MECP2; Mutation analysis; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; LANGUAGE; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; RETT SYNDROME; SPAIN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GAIT DISORDERS, NEUROLOGIC; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS; RETT SYNDROME; SEX FACTORS; SPAIN; SPEECH DISORDERS; STEREOTYPIC MOVEMENT DISORDER;

EID: 0035196349     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00374-6     Document Type: Conference Paper

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