A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
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DOI: 10.1038/hgv.2017.30
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… read more here.
Keywords: syndrome two; bernard soulier; soulier syndrome; case bernard ... See more keywords