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A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
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 r...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5529668/ https://ncbi.nlm.nih.gov/pubmed/28765788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.30 |
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