Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
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DOI: 10.3324/haematol.2023.282949
Abstract: Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30%, transformation to a myeloid neoplasm occurs. Approximately 90% of patients have biallelic pathogenic variants… read more here.
Keywords: diamond syndromes; syndromes clinical; clinical genetic; genetic biochemical ... See more keywords