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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain co...
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出版年: | Nat Commun |
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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
2015
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4519989/ https://ncbi.nlm.nih.gov/pubmed/26216346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms8870 |
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