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Chediak-Higashi syndrome

1 Jan 2008

Abstract excerpt

PURPOSE OF REVIEW: Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist. The CHS1/LYST gene was identified over 10...

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PMID: 18043242
DOI: 10.1097/moh.0b013e3282f2bcce

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