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A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS‐induced neutropenia and petechiae in patients with CS.
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| 出版年: | Clin Case Rep |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8301562/ https://ncbi.nlm.nih.gov/pubmed/34322253 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.4492 |
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