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Case Reports
. 2004 Sep;41(9):944-7.

Griscelli syndrome: Rab 27a mutation

Affiliations
  • PMID: 15475639
Free article
Case Reports

Griscelli syndrome: Rab 27a mutation

S R Sheela et al. Indian Pediatr. 2004 Sep.
Free article

Abstract

An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.

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