Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review

Falcicchio, G; Riva, A; La Neve, A; Iacomino, M; Lastella, P; Suppressa, P; Sciruicchio, V; Trojano, M; Striano, P

Striano, P (通讯作者),IRCCS Ist Giannina Gaslini, Paediat Neurol & Muscular Dis Unit, Genoa, Italy.;Striano, P (通讯作者),Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy.

FRONTIERS IN GENETICS, 2023; 13 ():

Abstract

Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, c......

Full Text Link