Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

F. Calì, P. Failla, V. Chiavetta, A. Ragalmuto, G. Ruggeri, P. Schinocca, C. Schepis, V. Romano, C. Romano

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Medicine & Life Sciences