Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

Abstract excerpt

Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS. In the present study, we show that most, but not all, patients classified based on rigorous clinical criteria as having...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone Marrow Diseases
• Share to DNA Mutational Analysis