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Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan

✍ Scribed by Tomohiro Morio; Naomi Takahashi; Fumiaki Watanabe; Fumiko Honda; Masaki Sato; Masatoshi Takagi; Ken-ichi Imadome; Toshio Miyawaki; Domenico Delia; Kotoka Nakamura; Richard A. Gatti; Shuki Mizutani

Book ID: 107618860
Publisher: Carden Jennings Publishing
Year: 2009
Tongue: English
Weight: 242 KB
Volume: 90
Category: Article
ISSN: 0925-5710
DOI: 10.1007/s12185-009-0408-0

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## Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clinical and laboratory data of 51 genetically prov