article_metadata: Maria Clara Bonaglia Sara Bertuzzo Anna Maria Ciaschini Giancarlo Discepoli Lucia Castiglia Romina Romaniello Orsetta Zuffardi Marco Fichera
article_metadata: 10.1186/s13039-020-00490-6
article_metadata: Mol Cytogenet
article_metadata: 2020 Jun 11;13:22.
article_metadata: balanced rearrangements cardiac disorder chromosomal breakpoints genotype-phenotype haploinsufficiency next-generation sequencing phelan-mcdermid syndrome ryr2 reciprocal translocation shank3
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32536973/
article_metadata: Case Reports
article_metadata: PMC7291734
article_metadata: 32536973
article_metadata: 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
article_metadata: 2020