case_images: PMC10768175_01
case_images: Overview of the individuals' history (A) Diagnostic procedure including multigene panel analysis and re-evaluation of the data (B) Individuals pedigree (C) Protein and domain structure of PIEZO2 (Uniprot, Q9H5I5). Note that the identified variant is not in a functional domain. ID; intellectual disability.
case_images: fgene-14-1297754-g001.jpg
case_images: PMC10768175_01_fgene-14-1297754-g001.jpg
case_images: F1
case_images: At age eight our UPD re-evaluation project took place and the parental isodisomy on chromosome 18 was discovered (Figures 1A, B).