Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
Armstrong
J
J
Pineda
M
M
Aibar
E
E
Geán
E
E
Monrós
E
E
D000293:Adolescent; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012097:Repressor Proteins / Q000235:genetics; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins