article_metadata: Maria Clara Bonaglia Eliana Salvo Manuela Sironi Sara Bertuzzo Edoardo Errichiello Teresa Mattina Orsetta Zuffardi
article_metadata: 10.3389/fgene.2023.1244983
article_metadata: Front Genet
article_metadata: 2023 Sep 21:14:1244983.
article_metadata: fbn1 robo2 chromothripsis complex chromosome rearrangement intellectual disability
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37811140/
article_metadata: Case Reports
article_metadata: PMC10551147
article_metadata: 37811140
article_metadata: Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
article_metadata: 2023