The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.
Kirk
E P
EP
Malaty-Brevaud
V
V
Martini
N
N
Lacoste
C
C
Levy
N
N
Maclean
K
K
Davies
L
L
Philip
N
N
Badens
C
C
D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics; D003285:Contractile Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D064448:Filamins; D020440:Gene Duplication; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D013577:Syndrome
D003285:Contractile Proteins; D064448:Filamins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D008840:Microfilament Proteins; D039842:Neural Cell Adhesion Molecule L1