Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses

Pediatr Int. 2023 Jan;65(1):e15405. doi: 10.1111/ped.15405.
No abstract available

Keywords: Potocki-Shaffer syndrome; WAGR syndrome; chromosome 11; exostoses; long-term follow-up.

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders* / genetics
  • Exostoses, Multiple Hereditary* / complications
  • Exostoses, Multiple Hereditary* / diagnosis
  • Exostoses, Multiple Hereditary* / genetics
  • Humans
  • WAGR Syndrome*

Supplementary concepts

  • Potocki-Shaffer syndrome