Pearson's syndrome without marrow involvement.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 9279155.
- Also identified by PMC identifier 1717248.
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Abstract
A child with a mitochondrial DNA deletion who presented with pancreatic exocrine insufficiency is reported. Though she developed many other features of Pearson's syndrome, there was no bone marrow involvement. Syndromes associated with mitochondrial DNA defects are highly variable and absence of one feature should not inhibit investigation.
Medical subject headings
- DNA, Mitochondrial
- Gene Deletion
- Pancreatic Diseases