Dell'Oca(M),Boggio Bozzo(S),Vaglietti(S),M... Nat Commun 2026-02-27

...IRF2BPL gene have been associated with the neurodevelopmental NEDAMSS syndrome and other IRF2BPL-related disorders. Thes...

von Quednow(E),Bragado López(S),Martínez G... Am J Med Genet A 2026-07-00

We describe a male child with a de novo IRF2BPL c.2152del (p.Cys718Alafs*49) frameshift variant presenting with early-on...

Xu(HW),Zeng(ZQ),Fan(ZG),Lu(KY),Chen(X),Che... Am J Transl Res None

...IRF2BPL, c.2714C>T in KDM6A.

Goldstone-Joubert(Z),Pascual(DM),Bailey(LA... Am J Med Genet B Neuropsych... 2026-08-21

IRF2BPL-related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Reg...

Liu(W),Xia(K),Huang(X),Wei(Z),Wei(Z),Guo(W... Cell Signal 2025-11-00

...IRF2BPL's molecular mechanisms. A subcutaneous xenograft tumor model was generated to validate its role in vivo. IRF2BPL...