MECP2 duplication in a patient with congenital central hypoventilation.
Belligni
Elga F
EF
Department of Pediatrics, University of Torino, Torino, Italy.
Palmer
Rodger W
RW
Hennekam
Raoul C M
RC
D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2