Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia,...

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Бібліографічні деталі
Автори: Conti, V, Carabalona, A, Pallesi-Pocachard, E, Parrini, E, Leventer, R, Buhler, E, McGillivray, G, Michel, F, Striano, P, Mei, D, Watrin, F, Lise, S, Pagnamenta, A, Taylor, J, Kini, U, Clayton-Smith, J, Novara, F, Zuffardi, O, Dobyns, W, Scheffer, I, Robertson, S, Berkovic, S, Represa, A, Keays, D, Cardoso, C
Формат: Journal article
Мова:English
Опубліковано: 2013

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