Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree
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S. Claes | E. Legius | J. Cassiman | P. Raeymaekers | M. Piras | T. Bustos | R. Lander | V. Simosa | Tania Aguirre