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Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?
We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not expl...
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| Main Authors: | , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4167236/ https://ncbi.nlm.nih.gov/pubmed/24989684 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36664 |
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