Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms
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DOI: 10.1101/mcs.a006237
Abstract: We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman–Diamond syndrome (SDS) with… read more here.
Keywords: diagnosis; diamond syndrome; shwachman diamond; diagnosis shwachman ... See more keywords