Refining the phenotype of common mutations in Rett syndrome.
Colvin
L
L
Leonard
H
H
de Klerk
N
N
Davis
M
M
Weaving
L
L
Williamson
S
S
Christodoulou
J
J
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D041321:Chromosomes, Human, X / Q000235:genetics; D015331:Cohort Studies; D018899:CpG Islands / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics*
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins