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...

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Detalles Bibliográficos
Autores principales: Kawashima, Nozomu, Oyarbide, Usua, Cipolli, Marco, Bezzerri, Valentino, Corey, Seth J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2023
Materias:
Review Article
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

Internet

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

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