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Arteriovenous Malformation Associated with a HRAS Mutation
The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and foun...
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| Publicado en: | Hum Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6874881/ https://ncbi.nlm.nih.gov/pubmed/31637524 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02072-y |
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