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Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
We present here a case of attenuated familial adenomatous polyposis (AFAP) with a family history of desmoids and thyroid tumors. This patient had no colonic polyps but did have multiple desmoids. Genetic analysis identified a 4-bp deletion in codon 2644 (c.7932_7935delTTAT: p.Tyr2645LysfsX14) of the...
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| Vydáno v: | Hum Genome Var |
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| Hlavní autoři: | , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785566/ https://ncbi.nlm.nih.gov/pubmed/27081525 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.11 |
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