Article
Stickler syndrome: clinical characteristics and diagnostic criteria.
American journal of medical genetics. Part A - 15 Oct 2005
Rose Peter S, Levy Howard P, Liberfarb Ruth M, Davis Joie, Szymko-Bennett Y, Rubin Benjamin I, Tsilou Ekaterini, Griffith Andrew J, Francomano Clair A
Abstract excerpt
The purpose of this study was to establish diagnostic criteria for Stickler syndrome. Ninety patients from 38 families had complete evaluations for possible Stickler syndrome. Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families. In the remaining 65 patients, 47 from 25 families were affected with Stickler syndrome and 18 from seven families...
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