Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase al...

Por Leeflang, E, Marsh, S, Parrini, E, Moro, F, Pilz, D, Dobyns, W, Guerrini, R, Wheless, J, Gleeson, J
Publicado em 2003

FLNA genomic rearrangements cause periventricular nodular heterotopia

Por Clapham, K.R., Yu, T.W., Ganesh, V.S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M.M., du Souich, C., van Karnebeek, C., Guerrini, R., Walsh, C.A.
Publicado em 2012