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The Williams syndrome: objective definition and diagnosis.

作者信息

Preus M

出版信息

Clin Genet. 1984 May;25(5):422-8. doi: 10.1111/j.1399-0004.1984.tb02011.x.

Abstract

Fifty-two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99%. An index using 40 of the characteristics is expected to be applicable to young infants without a substantial decrease in accuracy.

摘要

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