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The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
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 AVolume:
5
Language:
english
Journal:
Genetics in Medicine
DOI:
10.1097/00125817-200301000-00004
Date:
February, 2003
File:
PDF, 306 KB
english, 2003