Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A.
Mattioli F, et al. Among authors: hebert a.
Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3.
Genome Med. 2025.
PMID: 40229899
Free PMC article.