Article
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.
International journal of hematology - 1 Nov 2009
Morio Tomohiro, Takahashi Naomi, Watanabe Fumiaki, Honda Fumiko, Sato Masaki, Takagi Masatoshi, Imadome Ken-Ichi, Miyawaki Toshio, Delia Domenico, Nakamura Kotoka, Gatti Richard A, Mizutani Shuki
Abstract excerpt
A nationwide survey was conducted for identifying ataxia-telangiectasia (AT) patients in Japan. Eighty-nine patients were diagnosed between 1971 and 2006. Detailed clinical and laboratory data of 64 patients including affected siblings were collected. Analyses focused on malignancy, therapy-related toxicity, infection, and hematological/immunological parameters. The phenotypic variability of AT was assessed by...
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