A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
Donzel-Javouhey
Anne
A
Thauvin-Robinet
Christel
C
Cusin
Veronica
V
Madinier
Nathalie
N
Manceau
Eric
E
Dipanda
Dominique
D
Dulieu
Véronique
V
Mugneret
Francine
F
Huet
Frédéric
F
Teyssier
Jean-Raymond
JR
Faivre
Laurence
L
D001483:Base Sequence; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D004247:DNA