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- W2736704836 abstract "Bernard-Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the responsible gene. The compound heterozygosity would have occurred from the global and long-term racial migration that brought about an accidental encounter of two rare mutant alleles of different origins." @default.
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- W2736704836 date "2017-07-27" @default.
- W2736704836 modified "2023-10-12" @default.
- W2736704836 title "A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations" @default.
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- W2736704836 doi "https://doi.org/10.1038/hgv.2017.30" @default.
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