Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Reference

Chakraborty, Pranesh K., et al. “Mutations in TRNT1 Cause Congenital Sideroblastic Anemia With Immunodeficiency, Fevers, and Developmental Delay (SIFD)”. Blood, vol. 124, no. 18, Sept. 2014, pp. 2867–2871, https://doi.org/10.1182/blood-2014-08-591370.

PubMed Reference Number (PMID)

25193871