Associated Papers
Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.
Ye Y et al.
Frontiers in Medicine, 2025
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM et al.
Human Mutation, 2021
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.
Andolfo I et al.
Haematologica, 2020
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia.
Kim MH et al.
Clinical Case Reports, 2018
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