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A <i>de novo</i> X;8 translocation creates a <i>PTK2</i>-<i>THOC2</i> gene fusion with <i>THOC2</i> expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Eleonora Di Gregorio, F. Bianchi, Alfonso Schiavi, Alessandra M.A. Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza,

Journal of Medical Genetics · 2013 · 43 citations · 27 references

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Abstract

We suggest that THOC2 can play specific roles in neuronal cells and, possibly in combination with PTK2 reduction, may affect normal neural network formation, leading to cognitive impairment and cerebellar congenital hypoplasia.

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