Associated Papers
Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature.
Parisi L et al.
Haematologica, 2025
40438980 (PubMed )
Supplement: 2025_287393_PARISI_SUPPL.pdf
Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.
Ammar M et al.
Annals of Hematology, 2025
A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.
Oncul U et al.
Journal of Pediatric Hematology/oncology, 2021
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