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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
Background. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an “accelerated phase” characterized by hemophagocytic lymphohistiocytosis (HL...
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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: |
Hindawi Publishing Corporation
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2846365/ https://ncbi.nlm.nih.gov/pubmed/20368792 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2010/967535 |
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