Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 97, Issue 2, 2000, Pages 147-152

  Amir, Ruthie E ^b   Zoghbi, Huda Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NONE

Author keywords

Autistic features in females; MECP2; Mental retardation in females; Methyl CpG binding protein 2; Rett syndrome; X chromosome inactivation

Indexed keywords

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

ARTICLE; AUTISM; BRAIN DISEASE; CLINICAL FEATURE; CPG ISLAND; DEVELOPMENTAL DISORDER; DNA METHYLATION; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MENTAL DEFICIENCY; NERVE CELL DIFFERENTIATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SEX RATIO; TRANSCRIPTION REGULATION; X CHROMOSOMAL INHERITANCE;

ANIMALS; CHROMOSOMAL PROTEINS, NON-HISTONE; CPG ISLANDS; DNA-BINDING PROTEINS; FEMALE; GENOTYPE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0033646967     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO;2-O     Document Type: Article

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