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...
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| Asıl Yazarlar: | , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Ferrata Storti Foundation
2023-05-01
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| Seri Bilgileri: | Haematologica |
| Online Erişim: | https://haematologica.org/article/view/11095 |
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