Overview

Shwachman–Diamond syndrome


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A disorder (Shwachman–Bodian–Diamond syndrome) characterized by exocrine pancreatic insufficiency, haematological abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. It is caused by compound heterozygous or homozygous mutations in the SBDS gene which may perhaps function in RNA metabolism.

Subjects: Medicine and Health.


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