P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome

Podobné jednotky

• P248: Is 22q11.2 deletion syndrome truly less common in Black patients?
  Autor: Donna McDonald-McGinn, a další
  Vydáno: (2023-01-01)
• P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
  Autor: Donna McDonald-McGinn, a další
  Vydáno: (2024-01-01)
• P112: Updated clinical practice guidelines for managing children and adults with 22q11.2 deletion syndrome*
  Autor: Anne Bassett, a další
  Vydáno: (2023-01-01)
• A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery
  Autor: T. Blaine Crowley, a další
  Vydáno: (2024-12-01)
• P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome
  Autor: Sarah Donoghue, a další
  Vydáno: (2024-01-01)