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Clinical and laboratory findings in 8 patients with Bloom's syndrome
Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom�...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Specjalisci Dermatolodzy
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3322108/ https://ncbi.nlm.nih.gov/pubmed/22514588 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2012.1086 |
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