A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia
نویسندگان
چکیده
منابع مشابه
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Trp663X, which is a truncated protein that ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.146