Article
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.
Human molecular genetics - 1 Jul 2003
Frints Suzanna G M, Marynen Peter, Hartmann Dieter, Fryns Jean-Pierre, Steyaert Jean, Schachner Melitta, Rolf Bettina, Craessaerts Katleen, Snellinx An, Hollanders Karen, D'Hooge Rudi, De Deyn Peter P, Froyen Guy
Abstract excerpt
Investigation of MR patients with 3p aberrations led to the identification of the translocation breakpoint in intron five of the neural Cell Adhesion L1-Like (CALL or CHL1) gene in a man with non-specific mental retardation and 46,Y, t(X;3)(p22.1;p26.3). The Xp breakpoint does not seem to affect a known or predicted gene. Moreover, a fusion transcript with the CALL gene could not be detected and no mutations were...
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