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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Veröffentlicht in:Hum Genome Var
Hauptverfasser: Ikenoue, Tsuneo, Yamaguchi, Kiyoshi, Komura, Mitsuhiro, Imoto, Seiya, Yamaguchi, Rui, Shimizu, Eigo, Kasuya, Shinichi, Shibuya, Tetsuo, Hatakeyama, Seira, Miyano, Satoru, Furukawa, Yoichi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
Schlagworte:
Data Report
Online Zugang: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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