Description

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.SDS is caused in 95% of cases by mutations in the SBDS gene (7q11.22) encoding a ribosomal protein involved in ribosomal biogenesis and other cellular processes.

External Information

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