No correlation between phenotype and genotype in boys with a truncating MECP2 mutation.
Ravn
K
K
Nielsen
J B
JB
Uldall
P
P
Hansen
F J
FJ
Schwartz
M
M
D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D018899:CpG Islands / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011237:Predictive Value of Tests; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000209:etiology / Q000235:genetics
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins