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Griscelli Syndrome Type 2: Long-Term Follow-Up after Unrelated Donor Bone Marrow Transplantation
Dermatology, 04/29/09
Borroni RG et al. - Genotyping revealed a homozygous haplotype for polymorphic markers linked to the RAB27A locus, but no RAB27A mutation. A diagnosis of GS2 was established. The patient received bone marrow transplantation (BMT) from an unrelated donor, and after 72 months he did not show relapse of HLH. The long, uneventful follow-up supports the use of BMT from an unrelated donor if transplantation from a relative is not possible.
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