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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
Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, MarcoVolume:
13
Journal:
Molecular Cytogenetics
DOI:
10.1186/s13039-020-00490-6
Date:
December, 2020
File:
PDF, 936 KB
2020