Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

  1. Asif, M.
  2. Khayyat, A.I.A.
  3. Alawbathani, S.
  4. Abdullah, U.
  5. Sanner, A.
  6. Georgomanolis, T.
  7. Haasters, J.
  8. Becker, K.
  9. Budde, B.
  10. Becker, C.
  11. Thiele, H.
  12. Baig, S.M.
  13. Isidoro-García, M.
  14. Winter, D.
  15. Pogoda, H.-M.
  16. Muhammad, S.
  17. Hammerschmidt, M.
  18. Kraft, F.
  19. Kurth, I.
  20. Martin, H.G.
  21. Wagner, M.
  22. Nürnberg, P.
  23. Hussain, M.S.
Revue:
Genetics in Medicine

ISSN: 1530-0366 1098-3600

Année de publication: 2024

Volumen: 26

Número: 7

Type: Article

DOI: 10.1016/J.GIM.2024.101143 GOOGLE SCHOLAR lock_openAccès ouvert editor