Article
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Liberfarb Ruth M, Levy Howard P, Rose Peter S, Wilkin Douglas J, Davis Joie, Balog Joan Z, Griffith Andrew J, Szymko-Bennett Yvonne M, Johnston Jennifer J, Francomano Clair A, Tsilou Ekaterina, Rubin Benhamin I
Abstract excerpt
PURPOSE: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations. METHODS: Review of medical records, clinical evaluations, and mutational analyses of clinically diagnosed Stickler patients. RESULTS: Patients with...
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