Article
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
The Journal of pediatrics - 1 Jul 1999
Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger L A, Belt M A, Corey M, Rommens J M, Durie P R
Abstract excerpt
OBJECTIVES: With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases. STUDY DESIGN: Data from 116 families were collected, and patients conforming to our predetermined diagnostic criteria were analyzed. Phenotypic manifestations of affected siblings and singletons were compared with the use of t tests, Wilcoxon scores, and chi2 analysis....
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