Early prenatal diagnosis of ICF syndrome by mutation detection.
Rigolet
Muriel
M
U741-INSERM, Paris, France. rigolet@ijm.jussieu.fr
Grégoire
Annie
A
Lefort
Geneviève
G
Blanchet
Patricia
P
Courbes
Christine
C
Rodière
Michel
M
Sarda
Pierre
P
Viegas-Péquignot
Evani
E
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002503:Centromere / Q000235:genetics; D003241:Consanguinity; D020732:Cytogenetic Analysis; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics; D019175:DNA Methylation; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005146:Facial Asymmetry / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D042822:Genomic Instability; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome; D000097584:DNA Methyltransferase 3B
D004248:DNA (Cytosine-5-)-Methyltransferases; D000097584:DNA Methyltransferase 3B