Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel <i>PUS1</i> R144Q mutation, remarkable response to somatropin, and review of the literature
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Ferrata Storti Foundation
2025-05-01
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| Series: | Haematologica |
| Online Access: | https://haematologica.org/article/view/12081 |
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