Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

  1. Florencia Haase
  2. Oselyne T. W. Ong
  3. Irene Valenzuela
  4. Adam M. Bournazos
  5. Zainab Amasseri
  6. Frenny Sheth
  7. Jayesh Sheth
  8. Harsh Sheth
  9. Rebecca Buchert
  10. Tobias B. Haack
  11. Joris Andrieux
  12. Thomas Liehr
  13. Alma Kuechler
  14. Daniel de Los Reyes Helices
  15. Jessica Merjane
  16. Sandra T. Cooper
  17. Taroh Kinoshita
  18. Yoshiko Murakami
  19. Richard Webster
  20. Wendy Gold
  21. Leszek Lisowski
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  1. Version published to 10.1038/s41431-026-02223-6
  2. Version published to 10.21203/rs.3.rs-8463184/v1 on Research Square