Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
Article in Frontiers in Genetics (September 2023)
The most recent citing publications are shown below. View all 15 publications that cite this research output on Dimensions.
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Article in Molecular Cytogenetics (May 2023)
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
Article in Molecular Genetics & Genomic Medicine (March 2023)