Reynolds syndrome


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Reynolds syndrome

A condition (OMIM:613471) characterised by primary biliary cirrhosis (pruritis, jaundice, hepatomegaly, elevated serum alkaline phosphatase and positive serum mitochondrial autoantibodies), limited scleroderma, telangiectasia and Raynaud phenomenon.

Molecular pathology
Caused by defects in LBR, which encodes lamin B receptor (thought to mediate interaction between chromatin and lamin B).

Reynolds,

Telfer B., 20th century U.S. physician.
Reynolds syndrome - coexistence of progressive systemic sclerosis and primary biliary cirrhosis.
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