Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
H
H
Leonard
L
L
Colvin
J
J
Christodoulou
T
T
Schiavello
S
S
Williamson
M
M
Davis
D
D
Ravine
S
S
Fyfe
N
N
de Klerk
T
T
Matsuishi
I
I
Kondo
A
A
Clarke
S
S
Hackwell
Y
Y
Yamashita
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001315:Australia; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005838:Genotype; D006801:Humans; D007564:Japan; D051783:Methyl-CpG-Binding Protein 2; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics* / Q000503:physiopathology*; D006113:United Kingdom
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins