A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA.
Penque BA, et al. Among authors: lakhani sa.
Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12.
Eur J Med Genet. 2019.
PMID: 30439532