Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Fri?riksd?ttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson ?, Sulem P, Halldorsson GH, Melsted P, Gu?bjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome Med. 2025 Apr 14; 17(1):38.