De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.
Maiwald
Robert
R
Bönte
Anselm
A
Jung
Helena
H
Bitter
Pavel
P
Storm
Zoe
Z
Laccone
Franco
F
Herkenrath
Peter
P
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D012097:Repressor Proteins; 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