Article

Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndrome

2002-02-15

Abstract excerpt

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10–15% of patients exhibit a much milder clinical phenotype and survive to adulthood, but develop progressive and oft...

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Literature Corpus work: 08d5110c-2221-593d-998a-a412e7f3e22b
DOI: 10.1002/ajmg.10184.abs

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