Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.
Bourdon
V
V
Philippe
C
C
Bienvenu
T
T
Koenig
B
B
Tardieu
M
M
Chelly
J
J
Jonveaux
P
P
D000293:Adolescent; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020180:Heteroduplex Analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051783:Methyl-CpG-Binding Protein 2; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins