Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
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M. Fichera | O. Zuffardi | R. Romaniello | M. Bonaglia | L. Castiglia | G. Discepoli | Sara Bertuzzo | Anna Maria Ciaschini