title: Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.
authors.forename: V
authors.initials: V
authors.lastname: Bourdon
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: B
authors.initials: B
authors.lastname: Koenig
authors.forename: M
authors.initials: M
authors.lastname: Tardieu
authors.forename: J
authors.initials: J
authors.lastname: Chelly
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
mesh_terms: 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
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins