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Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants
Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30% of cases, transformation to a myeloid neoplasm occurs. Approximately 90% of patients have biallelic pathogenic variants i...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Fondazione Ferrata Storti
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543188/ https://www.ncbi.nlm.nih.gov/pubmed/37226705 http://dx.doi.org/10.3324/haematol.2023.282949 |