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