Neurophysiology Versus Clinical Genetics in Rett Syndrome: A Multicenter Study

    American Journal of Medical Genetics Part A, pp. 2301-2309, 2016.

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    Abstract:

    Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correla...More

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