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Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies

Autor: Redin, Claire, Brand, Harrison, Collins, Ryan, Hanscom, Carrie, Vamsee, Pillalamarri, Kammin, Tammy, Mitchell, E., Hodge, J.C., Schilit, S., Curall, B.B., Pereira, S., Seabra, C., Stone, M., Lawless, W., Lucente, D., Antolik, C., Hochstenbach, R., Renkens, I., Brilstra, E., Vergult, S., Menten, B., Janssens, S., Callewaert, B., D’heedene, A., D’hooghe, M, Roelens, F., van de Kamp, J., Nieuwint, A., Poddighe, P.J, van Ravenswaaij-Arts, C., Rump, P., van Essen, T., Freixo, J., David, Dezső, Liao, E.C., Leew, N. de, Brunner, H.G., Kloosterman, W., Thorland, E.C., Morton, C.C., Gusella, J.F., Talkowski, M E.

publicado em: Eur J Hum Gen.2016;24(S1):4. PL2.1 Balanced chromosomal abnormalities (BCAs) represent a unique class of genomic variation that involves large rearrangement of the chromosomes. To date their detection has been limited to cytogenetic res

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